Glucose transporter 1 deficiency syndrome (GLUT1DS), caused by impaired glucose transport at the blood–brain barriers, leads to various central nervous system dysfunctions. A comprehensive understanding of the underlying disease pathogenesis is still lacking. In this study, we have generated GLUT1DS-specific human induced pluripotent stem cells (hiPSCs) derived from two patients. These established GLUT1DS-specific hiPSC lines showed self-renewal and pluripotency and carried heterozygous frameshift or missense mutations in the responsible SLC2A1 gene. These novel cell resources provide new avenues for understanding disease mechanisms and developing new therapies for GLUT1DS.
{"title":"Generation of human induced pluripotent stem cell lines derived from two glucose transporter 1 deficiency syndrome patients","authors":"Rui Li , Hazuki Tsuboi , Hidenori Ito , Daigo Takagi , Yun-Hsuan Chang , Tomoya Shimizu , Yutaka Arai , Mami Matsuo-Takasaki , Michiya Noguchi , Yukio Nakamura , Kiyoshi Ohnuma , Satoru Takahashi , Yohei Hayashi","doi":"10.1016/j.scr.2024.103584","DOIUrl":"10.1016/j.scr.2024.103584","url":null,"abstract":"<div><div>Glucose transporter 1 deficiency syndrome (GLUT1DS), caused by impaired glucose transport at the blood–brain barriers, leads to various central nervous system dysfunctions. A comprehensive understanding of the underlying disease pathogenesis is still lacking. In this study, we have generated GLUT1DS-specific human induced pluripotent stem cells (hiPSCs) derived from two patients. These established GLUT1DS-specific hiPSC lines showed self-renewal and pluripotency and carried heterozygous frameshift or missense mutations in the responsible <em>SLC2A1</em> gene. These novel cell resources provide new avenues for understanding disease mechanisms and developing new therapies for GLUT1DS.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103584"},"PeriodicalIF":0.8,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142532698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-18DOI: 10.1016/j.scr.2024.103583
Kathleen Mommaerts , Satoshi Okawa , Margaux Schmitt , Olga Kofanova , Tracey R. Turner , Robert N. Ben , Antonio Del Sol , William Mathieson , Jens C. Schwamborn , Jason P. Acker , Fay Betsou
The successful use of human induced pluripotent stem cells (iPSCs) for research or clinical applications requires the development of robust, efficient, and reproducible cryopreservation protocols. After cryopreservation, the survival rate of iPSCs is suboptimal and cell line-dependent. We assessed the use of ice recrystallization inhibitors (IRIs) for cryopreservation of human iPSCs. A toxicity screening study was performed to assess specific small-molecule carbohydrate-based IRIs and concentrations for further evaluation. Then, a cryopreservation study compared the cryoprotective efficiency of 15 mM IRIs in 5 % or 10 % DMSO-containing solutions and with CryoStor® CS10. Three iPSC lines were cryopreserved as single-cell suspensions in the cryopreservation solutions and post-thaw characteristics, including pluripotency and differential gene expression were assessed. We demonstrate the fitness-for-purpose of 15 mM IRI in 5 % DMSO as an efficient cryoprotective solution for iPSCs in terms of post-thaw recovery, viability, pluripotency, and transcriptomic changes. This mRNA sequencing dataset has the potential to be used for molecular mechanism analysis relating to cryopreservation. Use of IRIs can reduce DMSO concentrations and its associated toxicities, thereby improving the utility, effectiveness, and efficiency of cryopreservation.
要成功地将人类诱导多能干细胞（iPSCs）用于研究或临床应用，就必须制定稳健、高效和可重复的冷冻保存方案。低温保存后，iPSCs 的存活率并不理想，而且与细胞系有关。我们评估了使用冰重结晶抑制剂（IRIs）冷冻保存人类 iPSCs 的情况。我们进行了一项毒性筛选研究，以评估特定的基于碳水化合物的小分子 IRIs 和浓度，供进一步评估。然后，一项冷冻保存研究比较了 15 mM IRIs 在含 5 % 或 10 % DMSO 溶液中以及与 CryoStor® CS10 的冷冻保护效率。三个 iPSC 品系作为单细胞悬浮液在低温保存溶液中进行了低温保存，并评估了解冻后的特征，包括多能性和不同的基因表达。我们从解冻后恢复、存活率、多能性和转录组变化等方面证明，15 mM IRI in 5 % DMSO 是一种高效的 iPSCs 低温保护溶液。该 mRNA 测序数据集有望用于与低温保存相关的分子机制分析。使用 IRIs 可以降低 DMSO 浓度及其相关毒性，从而提高冷冻保存的实用性、有效性和效率。
{"title":"Ice recrystallization inhibitors enable efficient cryopreservation of induced pluripotent stem cells: A functional and transcriptomic analysis","authors":"Kathleen Mommaerts , Satoshi Okawa , Margaux Schmitt , Olga Kofanova , Tracey R. Turner , Robert N. Ben , Antonio Del Sol , William Mathieson , Jens C. Schwamborn , Jason P. Acker , Fay Betsou","doi":"10.1016/j.scr.2024.103583","DOIUrl":"10.1016/j.scr.2024.103583","url":null,"abstract":"<div><div>The successful use of human induced pluripotent stem cells (iPSCs) for research or clinical applications requires the development of robust, efficient, and reproducible cryopreservation protocols. After cryopreservation, the survival rate of iPSCs is suboptimal and cell line-dependent. We assessed the use of ice recrystallization inhibitors (IRIs) for cryopreservation of human iPSCs. A toxicity screening study was performed to assess specific small-molecule carbohydrate-based IRIs and concentrations for further evaluation. Then, a cryopreservation study compared the cryoprotective efficiency of 15 mM IRIs in 5 % or 10 % DMSO-containing solutions and with CryoStor® CS10. Three iPSC lines were cryopreserved as single-cell suspensions in the cryopreservation solutions and post-thaw characteristics, including pluripotency and differential gene expression were assessed. We demonstrate the fitness-for-purpose of 15 mM IRI in 5 % DMSO as an efficient cryoprotective solution for iPSCs in terms of post-thaw recovery, viability, pluripotency, and transcriptomic changes. This mRNA sequencing dataset has the potential to be used for molecular mechanism analysis relating to cryopreservation. Use of IRIs can reduce DMSO concentrations and its associated toxicities, thereby improving the utility, effectiveness, and efficiency of cryopreservation.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103583"},"PeriodicalIF":0.8,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-17DOI: 10.1016/j.scr.2024.103585
Nikola Z. Popović , Albert Blanch-Asensio , Tessa Visser , Christine L. Mummery , Richard P. Davis , Loukia Yiangou
Brugada Syndrome (BrS) is a cardiac arrhythmia disorder which can lead to sudden cardiac death. It is commonly associated with loss-of-function mutations in the SCN5A gene, encoding the alpha subunit of the sodium voltage-gated channel. We introduced the BrS associated mutation c.845G>A (p.R282H) in the SCN5A gene in a human induced pluripotent stem cell (hiPSC) line. We describe two lines, where the mutation is either in the same (cis) or opposite (trans) allele to the common polymorphism c.1673A>G (p.H558R). These hiPSC lines provide physiological models to study the role of this mutation and the effect of the polymorphism in BrS.
{"title":"Generation of two induced pluripotent stem cell (iPSC) lines carrying the Brugada Syndrome-associated mutation SCN5A-R282H","authors":"Nikola Z. Popović , Albert Blanch-Asensio , Tessa Visser , Christine L. Mummery , Richard P. Davis , Loukia Yiangou","doi":"10.1016/j.scr.2024.103585","DOIUrl":"10.1016/j.scr.2024.103585","url":null,"abstract":"<div><div>Brugada Syndrome (BrS) is a cardiac arrhythmia disorder which can lead to sudden cardiac death. It is commonly associated with loss-of-function mutations in the <em>SCN5A</em> gene, encoding the alpha subunit of the sodium voltage-gated channel. We introduced the BrS associated mutation c.845G>A (p.R282H) in the <em>SCN5A</em> gene in a human induced pluripotent stem cell (hiPSC) line. We describe two lines, where the mutation is either in the same (<em>cis</em>) or opposite (<em>trans</em>) allele to the common polymorphism c.1673A>G (p.H558R). These hiPSC lines provide physiological models to study the role of this mutation and the effect of the polymorphism in BrS.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103585"},"PeriodicalIF":0.8,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142628553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-16DOI: 10.1016/j.scr.2024.103582
Joanna Jager , Marta Ribeiro , Marta Furtado , Teresa Carvalho , Petros Syrris , Luis R. Lopes , Perry M. Elliott , Joaquim M.S. Cabral , Maria Carmo-Fonseca , Simão Teixeira da Rocha , Sandra Martins
Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiomyopathy and a leading cause of sudden death. Genetic testing and familial cascade screening play a pivotal role in the clinical management of HCM patients. However, conventional genetic tests primarily focus on the detection of exonic and canonical splice site variation. Oversighting intronic non-canonical splicing variants potentially contributes to a proportion of HCM patients remaining genetically undiagnosed. Here, using a non-integrative reprogramming strategy, we generated induced pluripotent stem cell (iPSC) lines from four individuals carrying one of two variants within intronic regions of MYBPC3: c.1224-52G > A and c.1898-23A > G. Upon differentiation to iPSC-derived cardiomyocytes (iPSC-CMs), mis-spliced mRNAs were identified in cells harbouring these variants. Both abnormal mRNAs contained a premature termination codon (PTC), fitting the criteria for activation of nonsense mediated decay (NMD). However, the c.1898-23A > G transcripts escaped this mRNA quality control mechanism, while the c.1224-52G > A transcripts were degraded. The newly generated iPSC lines represent valuable tools for studying the functional consequences of intronic variation and for translational research aimed at reversing splicing abnormalities to prevent disease progression.
肥厚型心肌病（HCM）是最常见的遗传性心肌病，也是导致猝死的主要原因。基因检测和家族连锁筛查在 HCM 患者的临床治疗中发挥着关键作用。然而，传统的基因检测主要侧重于检测外显子和典型剪接位点变异。对内含子非典型剪接变异的忽视可能会导致一部分 HCM 患者在遗传学上得不到诊断。在此，我们采用非整合重编程策略，从四个携带 MYBPC3 内含子区两个变异之一（c.1224-52G > A 和 c.1898-23A > G）的个体中产生了诱导多能干细胞（iPSC）系。这两种异常 mRNA 都含有过早终止密码子 (PTC)，符合无义介导衰变 (NMD) 激活的标准。然而，c.1898-23A > G 转录本逃脱了这种 mRNA 质量控制机制，而 c.1224-52G > A 转录本则被降解。新生成的 iPSC 株系是研究内含子变异的功能性后果和旨在逆转剪接异常以预防疾病进展的转化研究的宝贵工具。
{"title":"Patient-derived induced pluripotent stem cells to study non-canonical splicing variants associated with Hypertrophic Cardiomyopathy","authors":"Joanna Jager , Marta Ribeiro , Marta Furtado , Teresa Carvalho , Petros Syrris , Luis R. Lopes , Perry M. Elliott , Joaquim M.S. Cabral , Maria Carmo-Fonseca , Simão Teixeira da Rocha , Sandra Martins","doi":"10.1016/j.scr.2024.103582","DOIUrl":"10.1016/j.scr.2024.103582","url":null,"abstract":"<div><div>Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiomyopathy and a leading cause of sudden death. Genetic testing and familial cascade screening play a pivotal role in the clinical management of HCM patients. However, conventional genetic tests primarily focus on the detection of exonic and canonical splice site variation. Oversighting intronic non-canonical splicing variants potentially contributes to a proportion of HCM patients remaining genetically undiagnosed. Here, using a non-integrative reprogramming strategy, we generated induced pluripotent stem cell (iPSC) lines from four individuals carrying one of two variants within intronic regions of <em>MYBPC3</em>: c.1224-52G > A and c.1898-23A > G. Upon differentiation to iPSC-derived cardiomyocytes (iPSC-CMs), mis-spliced mRNAs were identified in cells harbouring these variants. Both abnormal mRNAs contained a premature termination codon (PTC), fitting the criteria for activation of nonsense mediated decay (NMD). However, the c.1898-23A > G transcripts escaped this mRNA quality control mechanism, while the c.1224-52G > A transcripts were degraded. The newly generated iPSC lines represent valuable tools for studying the functional consequences of intronic variation and for translational research aimed at reversing splicing abnormalities to prevent disease progression.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103582"},"PeriodicalIF":0.8,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142508349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-16DOI: 10.1016/j.scr.2024.103587
Thiéry De Serres-Bérard , Valérie Pouliot , Jack Puymirat , Mohamed Chahine
Lymphoblastoid cell lines serve as a readily and continuous resource for generating induced pluripotent stem cells (iPSCs), enabling the modeling of various genetic disorders in vitro. When investigating congenital and infantile diseases, age-matched controls derived from pediatric individuals are typically necessary, yet they may be scarce or difficult to obtain. Here, the Sendai virus system was employed to introduce reprogramming factors into lymphoblastoid cells derived from an apparently healthy 4-year-old female. The generated iPSCs strongly expressed pluripotency cell markers and displayed robust trilineage differentiation. CBRCULi014-A is therefore a reliable control iPSC line for pediatric disease investigation.
{"title":"Generation of a control induced pluripotent stem cell line (CBRCULi014-A) derived from the lymphoblastoid cells of a pediatric individual","authors":"Thiéry De Serres-Bérard , Valérie Pouliot , Jack Puymirat , Mohamed Chahine","doi":"10.1016/j.scr.2024.103587","DOIUrl":"10.1016/j.scr.2024.103587","url":null,"abstract":"<div><div>Lymphoblastoid cell lines serve as a readily and continuous resource for generating induced pluripotent stem cells (iPSCs), enabling the modeling of various genetic disorders in vitro. When investigating congenital and infantile diseases, age-matched controls derived from pediatric individuals are typically necessary, yet they may be scarce or difficult to obtain. Here, the Sendai virus system was employed to introduce reprogramming factors into lymphoblastoid cells derived from an apparently healthy 4-year-old female. The generated iPSCs strongly expressed pluripotency cell markers and displayed robust trilineage differentiation. CBRCULi014-A is therefore a reliable control iPSC line for pediatric disease investigation.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103587"},"PeriodicalIF":0.8,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142537103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-15DOI: 10.1016/j.scr.2024.103579
Dandan Liu , Jiaxi Shen , Zongkuai Yang , Hangping Fan , Hao Wang , Ping Liang , Tingyu Gong
Lamin A/C is a protein encoded by the LMNA gene and belongs to the nuclear lamina protein family. Mutations in the LMNA gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. In this study, a lamin A/C knockout human induced pluripotent stem cell line was successfully generated using the CRISPR/Cas9 genome-editing technology, which was confirmed with normal pluripotency and karyotype.
{"title":"Generation of a lamin A/C knockout human induced pluripotent stem cell line (ZJULLi007-A) via CRISPR/Cas9","authors":"Dandan Liu , Jiaxi Shen , Zongkuai Yang , Hangping Fan , Hao Wang , Ping Liang , Tingyu Gong","doi":"10.1016/j.scr.2024.103579","DOIUrl":"10.1016/j.scr.2024.103579","url":null,"abstract":"<div><div>Lamin A/C is a protein encoded by the <em>LMNA</em> gene and belongs to the nuclear lamina protein family. Mutations in the <em>LMNA</em> gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. In this study, a lamin A/C knockout human induced pluripotent stem cell line was successfully generated using the CRISPR/Cas9 genome-editing technology, which was confirmed with normal pluripotency and karyotype.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103579"},"PeriodicalIF":0.8,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142475144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-15DOI: 10.1016/j.scr.2024.103580
Tingyu Gong , Dandan Liu , Xiaochen Wang , Danni Zhou , Ling Tang , Hao Wang , Jun Su , Ping Liang
Calcium- and integrin-binding protein 1 (CIB1) has a diverse role in many different cell types and processes, including calcium signaling, migration, adhesion, proliferation, and survival. It is associated with cancer, cardiovascular disease and male infertility. Here, CRISPR/Cas9 genome-editing technology was employed to establish a CIB1 knockout human embryonic stem cell line, which exhibited normal pluripotency and karyotype.
{"title":"Establishment of a CIB1 knockout human pluripotent stem cell line via CRISPR/Cas9 genome editing technology","authors":"Tingyu Gong , Dandan Liu , Xiaochen Wang , Danni Zhou , Ling Tang , Hao Wang , Jun Su , Ping Liang","doi":"10.1016/j.scr.2024.103580","DOIUrl":"10.1016/j.scr.2024.103580","url":null,"abstract":"<div><div>Calcium- and integrin-binding protein 1 (CIB1) has a diverse role in many different cell types and processes, including calcium signaling, migration, adhesion, proliferation, and survival. It is associated with cancer, cardiovascular disease and male infertility. Here, CRISPR/Cas9 genome-editing technology was employed to establish a CIB1 knockout human embryonic stem cell line, which exhibited normal pluripotency and karyotype.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103580"},"PeriodicalIF":0.8,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142445483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-15DOI: 10.1016/j.scr.2024.103576
Filipa Esteves , David Brito , Ana Teresa Rajado , Nádia Silva , Joana Apolónio , Vânia Palma Roberto , ALFA Score Consortium, Raquel P. Andrade , Sofia Calado , Maria Leonor Faleiro , Carlos Matos , Nuno Marques , Ana Marreiros , Hipólito Nzwalo , Sandra Pais , Isabel Palmeirim , Sónia Simãoa , Natércia Joaquim , Rui Miranda , António Pêgas , José Bragança
Human induced pluripotent stem cells (hiPSCs) hold promises to model and understand human diseases, including those associated with ageing. Here, we describe ABCRIi001-A, a hiPSC line generated from peripheral blood mononuclear cells (PBMCs) of a 79-year-old female enrolled in a study for development of an ageing score (ALFA Score). PBMCs were reprogrammed using three Sendai virus-based reprogramming vectors (hKOS, hc-Myc, and hKlf4). ABCRIi001-A showed normal morphology and karyotype, viral clearance, absence of genomic aberrations, and their pluripotency was confirmed by expression of pluripotency-related markers and their ability to differentiate into the three germ layers. ABCRIi001-A is valuable for ageing-related studies.
{"title":"Establishment of an induced pluripotent cell line (ABCRIi001-A) from an elderly female for ageing research","authors":"Filipa Esteves , David Brito , Ana Teresa Rajado , Nádia Silva , Joana Apolónio , Vânia Palma Roberto , ALFA Score Consortium, Raquel P. Andrade , Sofia Calado , Maria Leonor Faleiro , Carlos Matos , Nuno Marques , Ana Marreiros , Hipólito Nzwalo , Sandra Pais , Isabel Palmeirim , Sónia Simãoa , Natércia Joaquim , Rui Miranda , António Pêgas , José Bragança","doi":"10.1016/j.scr.2024.103576","DOIUrl":"10.1016/j.scr.2024.103576","url":null,"abstract":"<div><div>Human induced pluripotent stem cells (hiPSCs) hold promises to model and understand human diseases, including those associated with ageing. Here, we describe ABCRIi001-A, a hiPSC line generated from peripheral blood mononuclear cells (PBMCs) of a 79-year-old female enrolled in a study for development of an ageing score (ALFA Score). PBMCs were reprogrammed using three Sendai virus-based reprogramming vectors (hKOS, hc-Myc, and hKlf4). ABCRIi001-A showed normal morphology and karyotype, viral clearance, absence of genomic aberrations, and their pluripotency was confirmed by expression of pluripotency-related markers and their ability to differentiate into the three germ layers. ABCRIi001-A is valuable for ageing-related studies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103576"},"PeriodicalIF":0.8,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142508344","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-14DOI: 10.1016/j.scr.2024.103581
Yuqin Liang , Xihao Sun , Hang Chen , Zekai Cui , Jianing Gu , Chunwen Duan , Shengru Mao , Yuexi Chen , Xiaoxue Li , Siqi Xiong , Jiansu Chen
PRPF6, located on chromosome 20, is required for the formation of the spliceosome. Mutations in the PRPF6 gene can lead to retinitis pigmentosa (RP), a common inherited retinal disease characterized by progressive degeneration of retinal pigment epithelium and photoreceptors. Here, we generated an induced pluripotent stem cell (iPSC) line carrying the PRPF6 c.2699 G > A mutation using CRISPR/Cas9 technology, which will provide a valuable resource for RP pathogenesis and treatment research.
位于 20 号染色体上的 PRPF6 是剪接体形成所必需的。PRPF6基因突变可导致色素性视网膜炎（RP），这是一种常见的遗传性视网膜疾病，其特征是视网膜色素上皮细胞和感光细胞进行性变性。在这里，我们利用 CRISPR/Cas9 技术生成了携带 PRPF6 c.2699 G > A 突变的诱导多能干细胞（iPSC）系，这将为 RP 发病机制和治疗研究提供宝贵的资源。
{"title":"CRISPR/Cas9-mediated generation of a human induced pluripotent stem cell line with PRPF6 c.2699 G > A mutation to model retinitis pigmentosa","authors":"Yuqin Liang , Xihao Sun , Hang Chen , Zekai Cui , Jianing Gu , Chunwen Duan , Shengru Mao , Yuexi Chen , Xiaoxue Li , Siqi Xiong , Jiansu Chen","doi":"10.1016/j.scr.2024.103581","DOIUrl":"10.1016/j.scr.2024.103581","url":null,"abstract":"<div><div><em>PRPF6</em>, located on chromosome 20, is required for the formation of the spliceosome. Mutations in the <em>PRPF6</em> gene can lead to retinitis pigmentosa (RP), a common inherited retinal disease characterized by progressive degeneration of retinal pigment epithelium and photoreceptors. Here, we generated an induced pluripotent stem cell (iPSC) line carrying the <em>PRPF6</em> c.2699 G > A mutation using CRISPR/Cas9 technology, which will provide a valuable resource for RP pathogenesis and treatment research.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103581"},"PeriodicalIF":0.8,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142445482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-11DOI: 10.1016/j.scr.2024.103574
Song Su , Ying Ren , Hongwei Zhang , Yi Liu , Yong Liu , Zilong Li , Tong Zhang , Fang Fang
Epilepsy affects ∼ 65 million people worldwide. In this study, peripheral blood mononuclear cells were isolated from a young patient patient bearing a Nitrogen Perntease Regulator Like 3 Protein (NPRL3) mutation and suffering from Epilepsy verified by clinical and genetic diagnosis. Induced pluripotent stem cells (iPSCs) were established by a non-integrative method, using plasmids carrying OCT4, SOX2, KLF4, BCL-XL and C-MYC. The established iPSCs presented typical pluripotent cells morphology, normal karyotype, and potential to differentiate into three germ layers. Our approach offers a useful model to explore pathogenesis and therapy of Epilepsy.
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