Pub Date : 2024-12-28DOI: 10.1016/j.scr.2024.103642
Amina Saleem , Mingyu Wei , Muhammad Khawar Abbas , Siyao Zhang , Jiaqi Fan , Yang Xian , Hongfeng Jiang
Pyruvate Dehydrogenase Kinase1 (PDK1) belongs to the family of kinases, regulates diverse metabolic processes. PDK1 is a susceptibility locus for heart failure via thinning of ventricle walls, and enlarged atria and ventricles. We successfully developed a PDK1 knockout (PDK1−/−) human embryonic stem cell (hESC) line using an episomal vector-based CRISPR/Cas9 system explore the role of PDK in human heart development. This PDK1-KO hESC line-maintained stem cell-like morphology, pluripotency, and normal karyotype and can differentiate into all three germ layers in vivo. This cell line will be a valuable tool for future research on the role of PDK1 in heart development.
{"title":"Generation of a PDK-1 knockout human embryonic stem cell line by CRISPR/(WAe009-A-2K) Cas9 editing","authors":"Amina Saleem , Mingyu Wei , Muhammad Khawar Abbas , Siyao Zhang , Jiaqi Fan , Yang Xian , Hongfeng Jiang","doi":"10.1016/j.scr.2024.103642","DOIUrl":"10.1016/j.scr.2024.103642","url":null,"abstract":"<div><div>Pyruvate Dehydrogenase Kinase1 (PDK1) belongs to the family of kinases, regulates diverse metabolic processes. PDK1 is a susceptibility locus for heart failure via thinning of ventricle walls, and enlarged atria and ventricles. We successfully developed a PDK1 knockout (PDK1<sup>−</sup>/<sup>−</sup>) human embryonic stem cell (hESC) line using an episomal vector-based CRISPR/Cas9 system explore the role of PDK in human heart development. This PDK1-KO hESC line-maintained stem cell-like morphology, pluripotency, and normal karyotype and can differentiate into all three germ layers in vivo. This cell line will be a valuable tool for future research on the role of PDK1 in heart development.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103642"},"PeriodicalIF":0.8,"publicationDate":"2024-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142972146","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 : 2024-12-22DOI: 10.1016/j.scr.2024.103637
Mariangela Pappadà , Sara Melija , Martina Facchini , Mara Martino , Sofia Minarini , Anna Caproni , Chiara Nordi , Paola Rimessi , Rita Selvatici , Peggy Marconi
Spinocerebellar ataxia type 1 (SCA1) is one of six SCAs related to the expansion of a CAG repeat, encoding glutamine. Induced pluripotent stem cells were generated by reprogramming fibroblasts isolated from a patient affected by SCA1, through the transduction of three viral vectors derived from a non-integrative virus. UNIFEi001-A cell line presents an ESC-like morphology, is vector-free, expresses pluripotency markers, presents a normal karyotype and can differentiate into the three germ layers. These cells can be further differentiated into neural stem cells and neurons to serve as a cellular model.
{"title":"Generation of a human induced pluripotent stem cell line (UNIFEi001-A) from a patient with Spinocerebellar ataxia type 1 (SCA1)","authors":"Mariangela Pappadà , Sara Melija , Martina Facchini , Mara Martino , Sofia Minarini , Anna Caproni , Chiara Nordi , Paola Rimessi , Rita Selvatici , Peggy Marconi","doi":"10.1016/j.scr.2024.103637","DOIUrl":"10.1016/j.scr.2024.103637","url":null,"abstract":"<div><div>Spinocerebellar ataxia type 1 (SCA1) is one of six SCAs related to the expansion of a CAG repeat, encoding glutamine. Induced pluripotent stem cells were generated by reprogramming fibroblasts isolated from a patient affected by SCA1, through the transduction of three viral vectors derived from a non-integrative virus. UNIFEi001-A cell line presents an ESC-like morphology, is vector-free, expresses pluripotency markers, presents a normal karyotype and can differentiate into the three germ layers. These cells can be further differentiated into neural stem cells and neurons to serve as a cellular model.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103637"},"PeriodicalIF":0.8,"publicationDate":"2024-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075538","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 : 2024-12-18DOI: 10.1016/j.scr.2024.103631
Can Cui , Jian Chen , Hao Shen , Bei Zhang
Parkinson’s Disease (PD), a prevalent neurodegenerative condition, is distinguished by its motor dysfunction. Induced pluripotent stem cells (iPSCs), derived from PD patients, constitute an exquisite investigative tool for elucidating the pathophysiology of the disease, assessing candidate therapeutics, and probing the potential for regenerative medicine approaches. The present study was designed to establish an iPSC line, designated TUSMi013-A, from the dermal fibroblasts of a 66-year-old female afflicted with PD, harboring mutations in VPS13C and TBP. This iPSC line offers a significant resource for the dissection of PD etiology and the innovation of novel therapeutic strategies.
{"title":"Derivation of induced pluripotent stem cell TUSMi013-A from a 66-year-old Chinese Han Parkinson’s disease patient carrying VPS13C and TBP mutations","authors":"Can Cui , Jian Chen , Hao Shen , Bei Zhang","doi":"10.1016/j.scr.2024.103631","DOIUrl":"10.1016/j.scr.2024.103631","url":null,"abstract":"<div><div>Parkinson’s Disease (PD), a prevalent neurodegenerative condition, is distinguished by its motor dysfunction. Induced pluripotent stem cells (iPSCs), derived from PD patients, constitute an exquisite investigative tool for elucidating the pathophysiology of the disease, assessing candidate therapeutics, and probing the potential for regenerative medicine approaches. The present study was designed to establish an iPSC line, designated TUSMi013-A, from the dermal fibroblasts of a 66-year-old female afflicted with PD, harboring mutations in VPS13C and TBP. This iPSC line offers a significant resource for the dissection of PD etiology and the innovation of novel therapeutic strategies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103631"},"PeriodicalIF":0.8,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143324068","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 : 2024-12-01DOI: 10.1016/j.scr.2024.103622
Yihui Li, Mingxia Du, Zibing Jin
{"title":"Corrigendum to “Generation of ID1/3 knockout human embryonic stem cell lines (WAe009-A-2A and WAe009-A-2B) derived from H9 using CRISPR/Cas9” [Stem Cell Research 81 (2024) 103569]","authors":"Yihui Li, Mingxia Du, Zibing Jin","doi":"10.1016/j.scr.2024.103622","DOIUrl":"10.1016/j.scr.2024.103622","url":null,"abstract":"","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103622"},"PeriodicalIF":0.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142795069","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 : 2024-11-22DOI: 10.1016/j.scr.2024.103617
Yunan Cheng , Huifang Sun , Xiaolei Chen , Xinyu Li , Yuming Xu , Yanlin Wang
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant degenerative disease that causes progressive cerebellar ataxia due to abnormal expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats in the ATXN3 gene, leading to abnormal accumulation of PolyQ to form neuronal nuclear inclusions. Currently, there is no effective treatment for it. Here, we obtained dermal fibroblasts from a patient and induced pluripotent stem cells (iPSCs) were successfully obtained by non-integrated reprogramming techniques. This cell line maintains typical pluripotent markers and mutation sequences of with normal karyotype. This provides resources for further research on the pathogenesis and treatment of SCA3.
{"title":"Generation of induced pluripotent stem cell line (ZZUi037-A) from a patient with spinocerebellar ataxia type 3","authors":"Yunan Cheng , Huifang Sun , Xiaolei Chen , Xinyu Li , Yuming Xu , Yanlin Wang","doi":"10.1016/j.scr.2024.103617","DOIUrl":"10.1016/j.scr.2024.103617","url":null,"abstract":"<div><div>Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant degenerative disease that causes progressive cerebellar ataxia due to abnormal expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats in the ATXN3 gene, leading to abnormal accumulation of PolyQ to form neuronal nuclear inclusions. Currently, there is no effective treatment for it. Here, we obtained dermal fibroblasts from a patient and induced pluripotent stem cells (iPSCs) were successfully obtained by non-integrated reprogramming techniques. This cell line maintains typical pluripotent markers and mutation sequences of with normal karyotype. This provides resources for further research on the pathogenesis and treatment of SCA3.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103617"},"PeriodicalIF":0.8,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142723930","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 : 2024-11-22DOI: 10.1016/j.scr.2024.103618
Weibo Chen , Hongjuan Wang , Kongxi Zhu , Teng Wang , Weihua Yu , Qiong Wu
We report the derivation of an induced pluripotent stem cell (iPSC) line, designated TSHSUi002-A, from a patient with Peutz-Jeghers syndrome carrying a heterozygous c.909C>G mutation in the STK11 gene. The iPSCs were generated through the reprogramming of peripheral blood mononuclear cells using a non-integrating method involving episomal vectors expressing OCT4, SOX2, KLF4, BCL-XL, and c-MYC. These iPSCs exhibit pluripotency markers, are capable of differentiating into cells of all three germ layers in vitro, and maintain a normal karyotype.
{"title":"Generation of the TSHSUi002-A induced pluripotent stem cell line from a patient with Peutz-Jeghers syndrome carring STK11 gene mutation","authors":"Weibo Chen , Hongjuan Wang , Kongxi Zhu , Teng Wang , Weihua Yu , Qiong Wu","doi":"10.1016/j.scr.2024.103618","DOIUrl":"10.1016/j.scr.2024.103618","url":null,"abstract":"<div><div>We report the derivation of an induced pluripotent stem cell (iPSC) line, designated TSHSUi002-A, from a patient with Peutz-Jeghers syndrome carrying a heterozygous c.909C>G mutation in the <em>STK11</em> gene. The iPSCs were generated through the reprogramming of peripheral blood mononuclear cells using a non-integrating method involving episomal vectors expressing OCT4, SOX2, KLF4, BCL-XL, and c-MYC. These iPSCs exhibit pluripotency markers, are capable of differentiating into cells of all three germ layers in vitro, and maintain a normal karyotype.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103618"},"PeriodicalIF":0.8,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142723932","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 : 2024-11-22DOI: 10.1016/j.scr.2024.103615
Shun Zhang , Jiahang Li , Wenmin Pan , Qing Ren , Yao Zhou , Ming Chen , Jia Qu , Shasha Li
The human CPAMD8 gene encodes proteins in the A2M/C3 (alpha-2-macroglobulin/complement 3) family, predominantly expressed in the distal tips of the retinal neuroepithelium that form the iris and ciliary body. Mutations in CPAMD8 have been linked to anterior segment dysplasia and congenital glaucoma. Using CRISPR/Cas9 editing, we inserted a 3*EAAAK-EGFP fluorescent tag into the CPAMD8 gene, enabling real-time observation of its expression and providing insights into its biological functions. The resulting gene-edited cell line retained normal stem cell morphology and karyotype, expressed essential pluripotency markers, and exhibited differentiation potential.
{"title":"Establishment of a CPAMD8-GFP reporter human embryonic stem cell line, IBBDe001-B, using CRISPR/Cas9 editing","authors":"Shun Zhang , Jiahang Li , Wenmin Pan , Qing Ren , Yao Zhou , Ming Chen , Jia Qu , Shasha Li","doi":"10.1016/j.scr.2024.103615","DOIUrl":"10.1016/j.scr.2024.103615","url":null,"abstract":"<div><div>The human CPAMD8 gene encodes proteins in the A2M/C3 (alpha-2-macroglobulin/complement 3) family, predominantly expressed in the distal tips of the retinal neuroepithelium that form the iris and ciliary body. Mutations in CPAMD8 have been linked to anterior segment dysplasia and congenital glaucoma. Using CRISPR/Cas9 editing, we inserted a 3*EAAAK-EGFP fluorescent tag into the CPAMD8 gene, enabling real-time observation of its expression and providing insights into its biological functions. The resulting gene-edited cell line retained normal stem cell morphology and karyotype, expressed essential pluripotency markers, and exhibited differentiation potential.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103615"},"PeriodicalIF":0.8,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142723931","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 : 2024-11-19DOI: 10.1016/j.scr.2024.103616
Jinghua Ruan , Mengqing Wu , Jiakai Xiang , Xianrui Hui , Lijun Yang , Ru Lin , Weize Xu , Qiang Shu
The leucine zipper–like transcriptional regulator 1 (LZTR1) gene has been reported to be associated with many kinds of human diseases, including cardiac disease, Noonan syndrome, and schwannomatosis. In this study, peripheral blood mononuclear cells (PBMCs) derived from patient diagnosed with dilated cardiomyopathy (DCM) was successfully reprogrammed into the human induced pluripotent stem cells (iPSCs) line, harboring a distinct heterozygous mutation in the LZTR1 gene. The established patient-derived iPSCs expressed endogenous pluripotent markers, demonstrated the potential to differentiate into three germ layers (endoderm, mesoderm, and ectoderm), and exhibited a normal karyotype.
{"title":"Generation of a human induced pluripotent stem cell line from a female patient carrying LZTR1 gene mutation","authors":"Jinghua Ruan , Mengqing Wu , Jiakai Xiang , Xianrui Hui , Lijun Yang , Ru Lin , Weize Xu , Qiang Shu","doi":"10.1016/j.scr.2024.103616","DOIUrl":"10.1016/j.scr.2024.103616","url":null,"abstract":"<div><div>The leucine zipper–like transcriptional regulator 1 (<em>LZTR1</em>) gene has been reported to be associated with many kinds of human diseases, including cardiac disease, Noonan syndrome, and schwannomatosis. In this study, peripheral blood mononuclear cells (PBMCs) derived from patient diagnosed with dilated cardiomyopathy (DCM) was successfully reprogrammed into the human induced pluripotent stem cells (iPSCs) line, harboring a distinct heterozygous mutation in the <em>LZTR1</em> gene. The established patient-derived iPSCs expressed endogenous pluripotent markers, demonstrated the potential to differentiate into three germ layers (endoderm, mesoderm, and ectoderm), and exhibited a normal karyotype.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103616"},"PeriodicalIF":0.8,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142693687","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 : 2024-11-17DOI: 10.1016/j.scr.2024.103614
Merve Ay , Desi Veleva , Mohammad Chowdhury , Sonja Drljaca , Thais Sobanski , Andrew B.J. Prowse , Dmitry A. Ovchinnikov
An ability to monitor cell cycle progression in real time has numerous applications in pluripotent stem cell-based models and therapeutics development. Fluorescence Ubiquitination-based Cell Cycle Indicator (FUCCI) systems enable live monitoring of the cell cycle in stem cells and their differentiated progenies in a non-invasive manner. We describe the generation and characterisation of a cell line with a doxycycline-inducible reporter system, iFUCCI, in the human embryonic stem cell (hESC) line MEL-1. MEL-1 iFUCCI hESCs exhibited a normal karyotype, expressed markers of the undifferentiated state, and demonstrated expected differentiation potential by giving rise to cell populations from all three germ layers.
{"title":"An inducible iFUCCI reporter cell line for tracking cell cycle dynamics in human pluripotent stem cells and their differentiated progeny","authors":"Merve Ay , Desi Veleva , Mohammad Chowdhury , Sonja Drljaca , Thais Sobanski , Andrew B.J. Prowse , Dmitry A. Ovchinnikov","doi":"10.1016/j.scr.2024.103614","DOIUrl":"10.1016/j.scr.2024.103614","url":null,"abstract":"<div><div>An ability to monitor cell cycle progression in real time has numerous applications in pluripotent stem cell-based models and therapeutics development. Fluorescence Ubiquitination-based Cell Cycle Indicator (FUCCI) systems enable live monitoring of the cell cycle in stem cells and their differentiated progenies in a non-invasive manner. We describe the generation and characterisation of a cell line with a doxycycline-inducible reporter system, iFUCCI, in the human embryonic stem cell (hESC) line MEL-1. MEL-1 iFUCCI hESCs exhibited a normal karyotype, expressed markers of the undifferentiated state, and demonstrated expected differentiation potential by giving rise to cell populations from all three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103614"},"PeriodicalIF":0.8,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142688953","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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