Pub Date : 2024-10-22DOI: 10.1016/j.scr.2024.103602
Nidaa A. Ababneh , Raghda Barham , Ban Al-Kurdi , Sabal Al Hadidi , Dema Ali , Ahmed A. Abdulelah , Adan Madadha , Amira Masri , Abdalla Awidi
(Charcot-Marie-Tooth disease (CMT) is a genetic disorder affecting peripheral nerves. The human induced pluripotent stem cell (iPSC) line JUCTCi018-A was created using dermal fibroblasts from a Charcot-Marie-Tooth disease type 2EE (CMT2EE) patient with a homozygous missense mutation in the MPV17 gene (c. 122G > A, p.Arg41Gln). These fibroblasts were reprogrammed using Sendai viruses that encoded OCT4, SOX2, KLF4, and c-MYC reprogramming factors. The iPSCs demonstrated normal morphology and karyotype, expressed pluripotency markers, and the ability to differentiate into the three germ layers. This iPSC line is valuable for investigating the mechanisms underlying CMT2EE.
{"title":"Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene","authors":"Nidaa A. Ababneh , Raghda Barham , Ban Al-Kurdi , Sabal Al Hadidi , Dema Ali , Ahmed A. Abdulelah , Adan Madadha , Amira Masri , Abdalla Awidi","doi":"10.1016/j.scr.2024.103602","DOIUrl":"10.1016/j.scr.2024.103602","url":null,"abstract":"<div><div><em>(</em>Charcot-Marie-Tooth disease (CMT) is a genetic disorder affecting peripheral nerves. The human induced pluripotent stem cell (iPSC) line JUCTCi018-A was created using dermal fibroblasts from a Charcot-Marie-Tooth disease type 2EE (CMT2EE) patient with a homozygous missense mutation in the MPV17 gene (c. 122G > A, p.Arg41Gln). These fibroblasts were reprogrammed using Sendai viruses that encoded OCT4, SOX2, KLF4, and c-MYC reprogramming factors. The iPSCs demonstrated normal morphology and karyotype, expressed pluripotency markers, and the ability to differentiate into the three germ layers. This iPSC line is valuable for investigating the mechanisms underlying CMT2EE.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103602"},"PeriodicalIF":0.8,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142508342","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 : 2024-10-21DOI: 10.1016/j.scr.2024.103596
Wei shan , Xiaomeng Cui , Dayan Wang , Baiqiang Wang , Xiangge Guo , Xumeng Wang , Jiaxuan Wang , Yanting Li , Guipeng An , Qian Ren
The KCNA2 gene is the voltage-gated ion channel from both functional and structural perspectives. KCNA2 is involved in diverse functions including the regulation of neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. To investigate the relevant pathophysiological mechanisms, we generated heterozygous KCNA2 knockout human induced pluripotent stem cell (iPSC) line via CRISPR/Cas9 gene editing. The generated iPSCs had a normal karyotype, were free of genetically integrated epitaxial plasmids, expressed pluripotency markers, and maintained trilineage differentiation potential.
{"title":"Generation of heterozygous KCNA2 knockout induced pluripotent stem cell line","authors":"Wei shan , Xiaomeng Cui , Dayan Wang , Baiqiang Wang , Xiangge Guo , Xumeng Wang , Jiaxuan Wang , Yanting Li , Guipeng An , Qian Ren","doi":"10.1016/j.scr.2024.103596","DOIUrl":"10.1016/j.scr.2024.103596","url":null,"abstract":"<div><div>The <em>KCNA2</em> gene is the voltage-gated ion channel from both functional and structural perspectives. <em>KCNA2</em> is involved in diverse functions including the regulation of neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. To investigate the relevant pathophysiological mechanisms, we generated heterozygous <em>KCNA2</em> knockout human induced pluripotent stem cell (iPSC) line via CRISPR/Cas9 gene editing. The generated iPSCs had a normal karyotype, were free of genetically integrated epitaxial plasmids, expressed pluripotency markers, and maintained trilineage differentiation potential.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103596"},"PeriodicalIF":0.8,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142532699","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 : 2024-10-21DOI: 10.1016/j.scr.2024.103591
Ronghua Liu , Guoxing Weng , Fuzhen Zheng , Jinyan Chen , Kun Wang , Junyong Han , Jie Huang , Licheng Yan , Jingjun Jin
Marfan syndrome (MFS) is a heritable dominant disorder of fibrous connective tissue, caused by mutations in the gene encoding fibrillin-1 on chromosome 15. Here, we report an induced pluripotent stem cell (iPSC) line generated from a patient with MFS who carries a heterozygous mutation of c.2777G > A(p.Cys926Tyr) in the FBN1 gene using an episomal method. The hiPS-MFS cell line has normal karyotype, expresses pluripotency markers, and has the ability to form three germ layers in vivo.This MFS-specific iPSC line can be used as a cell disease model to study the pathogenesis of Marfan syndrome.
{"title":"Generation of an integration-free induced pluripotent stem cell line, FJMAi001-A, from a Marfan syndrome patient with a heterozygous mutation c.2777G > A (p.Cys926Tyr) in FBN1","authors":"Ronghua Liu , Guoxing Weng , Fuzhen Zheng , Jinyan Chen , Kun Wang , Junyong Han , Jie Huang , Licheng Yan , Jingjun Jin","doi":"10.1016/j.scr.2024.103591","DOIUrl":"10.1016/j.scr.2024.103591","url":null,"abstract":"<div><div>Marfan syndrome (MFS) is a heritable dominant disorder of fibrous connective tissue, caused by mutations in the gene encoding fibrillin-1 on chromosome 15. Here, we report an induced pluripotent stem cell (iPSC) line generated from a patient with MFS who carries a heterozygous mutation of c.2777G > A(p.Cys926Tyr) in the FBN1 gene using an episomal method. The hiPS-MFS cell line has normal karyotype, expresses pluripotency markers, and has the ability to form three germ layers in vivo.This MFS-specific iPSC line can be used as a cell disease model to study the pathogenesis of Marfan syndrome.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103591"},"PeriodicalIF":0.8,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142606347","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 : 2024-10-21DOI: 10.1016/j.scr.2024.103595
Kerstin Tanzer, Britta Meier, Franca Vulinovic, Heike Pawlack, Christine Klein, Philip Seibler, Aleksandar Rakovic
A 3-bp deletion (ΔGAG) in TOR1A is a common cause of early-onset isolated dystonia DYT-TOR1A. The exact disease mechanism remains unknown. Here we describe the generation and characterization of four TorsinA-3xFLAG reporter induced pluripotent cell (iPSC) lines derived from a DYT-TOR1A patient. The cell lines carry either a ΔGAG variant or a corrected allele and a mono- or biallelic 3xFLAG-Tag introduced using CRISPR/Cas9 technology. These cells provide an opportunity to study differential protein stability, subcellular localization, and interactors of endogenous WT or ΔE variants of TorsinA in iPSCs, neural progenitor cells (smNPC), and neurons.
{"title":"Generation of four human-derived iPSC TorsinA-3xFLAG reporter lines from a DYT-TOR1A patient","authors":"Kerstin Tanzer, Britta Meier, Franca Vulinovic, Heike Pawlack, Christine Klein, Philip Seibler, Aleksandar Rakovic","doi":"10.1016/j.scr.2024.103595","DOIUrl":"10.1016/j.scr.2024.103595","url":null,"abstract":"<div><div>A 3-bp deletion (ΔGAG) in <em>TOR1A</em> is a common cause of early-onset isolated dystonia DYT-TOR1A. The exact disease mechanism remains unknown. Here we describe the generation and characterization of four TorsinA-3xFLAG reporter induced pluripotent cell (iPSC) lines derived from a DYT-TOR1A patient. The cell lines carry either a ΔGAG variant or a corrected allele and a mono- or biallelic 3xFLAG-Tag introduced using CRISPR/Cas9 technology. These cells provide an opportunity to study differential protein stability, subcellular localization, and interactors of endogenous WT or ΔE variants of TorsinA in iPSCs, neural progenitor cells (smNPC), and neurons.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103595"},"PeriodicalIF":0.8,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142532700","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 : 2024-10-20DOI: 10.1016/j.scr.2024.103593
Yue Wu , Xiao-Yan Meng , Hui-Fang Sun , Ying-Jie Zhang , Xiao-Hui Liu , Dian-Dian Wang , Dan-Hua Liu , Sen-Miao Li , Jia-Kang Li , Wen-Xiu Li , Shu-Ang Li , Pei-Pei Liu , Jian-Sheng Kang
We recruited a healthy 44-year-old female and obtained her skin fibroblasts. Subsequently, the induced pluripotent stem cell line was successfully established using non-integrated reprogramming technology. The cell line had a normal karyotype and has been confirmed to have good pluripotency through the detection of pluripotency markers and detection of teratoma formation. This cell line can serve as an effective control for studying the cellular pathological mechanisms of other specific mutations.
{"title":"Construction of induced pluripotent stem cell line (CSBZZUi002-A) from the fibroblast cells of a healthy female","authors":"Yue Wu , Xiao-Yan Meng , Hui-Fang Sun , Ying-Jie Zhang , Xiao-Hui Liu , Dian-Dian Wang , Dan-Hua Liu , Sen-Miao Li , Jia-Kang Li , Wen-Xiu Li , Shu-Ang Li , Pei-Pei Liu , Jian-Sheng Kang","doi":"10.1016/j.scr.2024.103593","DOIUrl":"10.1016/j.scr.2024.103593","url":null,"abstract":"<div><div>We recruited a healthy 44-year-old female and obtained her skin fibroblasts. Subsequently, the induced pluripotent stem cell line was successfully established using non-integrated reprogramming technology. The cell line had a normal karyotype and has been confirmed to have good pluripotency through the detection of pluripotency markers and detection of teratoma formation. This cell line can serve as an effective control for studying the cellular pathological mechanisms of other specific mutations.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103593"},"PeriodicalIF":0.8,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142508338","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 : 2024-10-20DOI: 10.1016/j.scr.2024.103590
Jing Shao , Chunhong Shao , Guang Yang , Yan Jin
We isolated peripheral blood mononuclear cells (PBMCs) from a healthy female donor, and successfully converted into induced pluripotent stem cells (iPSCs) by using non-integrating episomal vectors. These iPSCs displayed a normal karyotype, expressed markers of pluripotency, and showed the capacity to differentiate into three germ layers in vitro, which could be utilized for future research endeavors.
{"title":"Establishing an induced pluripotent stem cell line (SDPHi006-A) from a healthy Chinese female donor represents an accomplishment","authors":"Jing Shao , Chunhong Shao , Guang Yang , Yan Jin","doi":"10.1016/j.scr.2024.103590","DOIUrl":"10.1016/j.scr.2024.103590","url":null,"abstract":"<div><div>We isolated peripheral blood mononuclear cells (PBMCs) from a healthy female donor, and successfully converted into induced pluripotent stem cells (iPSCs) by using non-integrating episomal vectors. These iPSCs displayed a normal karyotype, expressed markers of pluripotency, and showed the capacity to differentiate into three germ layers in vitro, which could be utilized for future research endeavors.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103590"},"PeriodicalIF":0.8,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142508340","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 : 2024-10-20DOI: 10.1016/j.scr.2024.103592
Dasom Mun , Ji-Young Kang , Malgeum Park , Gyeongseo Yoo , Hyoeun Kim , Nuri Yun , You Mi Hwang , Boyoung Joung
Long QT syndrome type 2 (LQT2) is a heart disorder resulting from a loss-of-function mutation in the KCNH2 gene that causes loss of Kv11.1 channel function, potentially resulting in syncope, arrhythmias, and sudden death. We derived induced pluripotent stem cell line from PBMC of LQT2 patient carrying a variant of pathogenic variant (c.157G > A; p.Gly53Ser). The generation of iPSC lines was achieved using the non-integrative Sendai virus-mediated iPSC reprogramming method. The iPSC cell line exhibit pluripotency, normal karyotype, stem cell morphology, and differentiation capability, resulting a reliable cell source to study the effects of KCNH2 mutation in disease-specific cell types.
{"title":"Establishment of a human-induced pluripotent stem cell line from a long QT syndrome type 2 patient harboring a KCNH2 mutation","authors":"Dasom Mun , Ji-Young Kang , Malgeum Park , Gyeongseo Yoo , Hyoeun Kim , Nuri Yun , You Mi Hwang , Boyoung Joung","doi":"10.1016/j.scr.2024.103592","DOIUrl":"10.1016/j.scr.2024.103592","url":null,"abstract":"<div><div>Long QT syndrome type 2 (LQT2) is a heart disorder resulting from a loss-of-function mutation in the<!--> <!-->KCNH2<!--> <!-->gene that causes loss of Kv11.1 channel function, potentially resulting in syncope, arrhythmias, and sudden death. We derived induced pluripotent stem cell line from PBMC of LQT2 patient carrying a variant of pathogenic variant (c.157G > A; p.Gly53Ser). The generation of iPSC lines was achieved using the non-integrative Sendai virus-mediated iPSC reprogramming method. The iPSC cell line exhibit pluripotency, normal karyotype, stem cell morphology, and differentiation capability, resulting a reliable cell source to study the effects of KCNH2 mutation in disease-specific cell types.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103592"},"PeriodicalIF":0.8,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142508343","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}
We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a healthy 40-year-old Chinese Han female, using non-integrated reprogramming technology. The established iPSC line, SDCHi011-A, expressed pluripotency marker and could differentiate into cells of three germ layers in vitro with normal karyotype. This cell line is a valuable resource as a control line for stem cell research of disease models and molecular pathogenesis.
{"title":"Establishment of an induced pluripotent stem cell line (SDCHi011-A) from a healthy Chinese female donor","authors":"Shuyun Wang , Qian Zeng , Mengmeng Chen , Haiyan Zhang , Xin Lv","doi":"10.1016/j.scr.2024.103588","DOIUrl":"10.1016/j.scr.2024.103588","url":null,"abstract":"<div><div>We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a healthy 40-year-old Chinese Han female, using non-integrated reprogramming technology. The established iPSC line, SDCHi011-A, expressed pluripotency marker and could differentiate into cells of three germ layers in vitro with normal karyotype. This cell line is a valuable resource as a control line for stem cell research of disease models and molecular pathogenesis.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103588"},"PeriodicalIF":0.8,"publicationDate":"2024-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142508345","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}
Human induced pluripotent stem cells (hiPSCs) have become a revolutionary tool in biomedical research due to their unique in vitro properties and fate versatility. They offer insights into development or genetic disorders, facilitate drug discovery and hold promise for regenerative medicine. Here we generated three hiPSC cells – IPi002-A/B/C – from primary amniotic fluid cells (AFCs) obtained via amniocentesis for the prenatal diagnosis of MARCH syndrome: Multinucleated neurons, Anhydramnios, Renal dysplasia, Cerebellar hypoplasia, and Hydranencephaly. These AFCs underwent reprogramming through non-integrative viral transduction and the resulting hiPSCs exhibited normal karyotype and expressed typical pluripotency markers.
人类诱导多能干细胞（hiPSCs）因其独特的体外特性和命运多变性，已成为生物医学研究的革命性工具。它们有助于深入了解发育或遗传疾病，促进药物发现，并为再生医学带来希望。在这里，我们从羊膜腔穿刺术获得的原代羊水细胞（AFCs）中生成了三个hiPSC细胞--IPi002-A/B/C，用于MARCH综合征的产前诊断：多核神经元、无羊水、肾发育不良、小脑发育不全和多脑畸形。这些 AFC 通过非整合病毒转导进行了重编程，产生的 hiPSCs 显示出正常的核型并表达典型的多能性标记。
{"title":"Generation of IPi002-A/B/C human induced pluripotent stem cell lines from MARCH amniotic fluid cells","authors":"Mikaël Boullé , Ambre Leleu , Siham Schacre , Céline Banal , Alix Boucharlat , Solène Renault , Marcel Hollenstein , Patrick Frosk , Frank Yates , Nathalie Lefort , Fabrice Agou","doi":"10.1016/j.scr.2024.103589","DOIUrl":"10.1016/j.scr.2024.103589","url":null,"abstract":"<div><div>Human induced pluripotent stem cells (hiPSCs) have become a revolutionary tool in biomedical research due to their unique <em>in vitro</em> properties and fate versatility. They offer insights into development or genetic disorders, facilitate drug discovery and hold promise for regenerative medicine. Here we generated three hiPSC cells – IPi002-A/B/C – from primary amniotic fluid cells (AFCs) obtained via amniocentesis for the prenatal diagnosis of MARCH syndrome: Multinucleated neurons, Anhydramnios, Renal dysplasia, Cerebellar hypoplasia, and Hydranencephaly. These AFCs underwent reprogramming through non-integrative viral transduction and the resulting hiPSCs exhibited normal karyotype and expressed typical pluripotency markers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103589"},"PeriodicalIF":0.8,"publicationDate":"2024-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142508348","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 : 2024-10-19DOI: 10.1016/j.scr.2024.103586
Chunjin Zhang , Jing Li , Yipu Sai , Haitao Su , Youxu Jiang , Lihua Zhang , Liguo Jian , Hui Zhang , Guangli Guo , En Li , Xiaowei Li , Liqiang Sun
Dilated Cardiomyopathy (DCM), a prevalent form of cardiomyopathy, is characterized by ventricular dilation and systolic dysfunction. Its etiology is intricate, encompassing multiple genetic and environmental elements. The LMOD2 (Leiomodin 2) gene has been demonstrated to be closely associated with the pathogenesis of DCM. In this study, a pure cell line was generated by knocking out the LMOD2 gene, and a DCM cell model was established through induced differentiation, thus providing a powerful experimental approach for further understanding the pathogenesis of DCM. It also provides a potential research orientation for the early diagnosis and individualized treatment of DCM.
{"title":"Establishment of heterozygous LMOD2 knockout human embryonic stem cell line (ZZUNEUi022-A-1) using CRISPR/Cas9 system","authors":"Chunjin Zhang , Jing Li , Yipu Sai , Haitao Su , Youxu Jiang , Lihua Zhang , Liguo Jian , Hui Zhang , Guangli Guo , En Li , Xiaowei Li , Liqiang Sun","doi":"10.1016/j.scr.2024.103586","DOIUrl":"10.1016/j.scr.2024.103586","url":null,"abstract":"<div><div>Dilated Cardiomyopathy (DCM), a prevalent form of cardiomyopathy, is characterized by ventricular dilation and systolic dysfunction. Its etiology is intricate, encompassing multiple genetic and environmental elements. The LMOD2 (Leiomodin 2) gene has been demonstrated to be closely associated with the pathogenesis of DCM. In this study, a pure cell line was generated by knocking out the LMOD2 gene, and a DCM cell model was established through induced differentiation, thus providing a powerful experimental approach for further understanding the pathogenesis of DCM. It also provides a potential research orientation for the early diagnosis and individualized treatment of DCM.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103586"},"PeriodicalIF":0.8,"publicationDate":"2024-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142508346","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}
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