Ines Ross Tacco , Joseph Olshausen , Tse Yuan Chan , Naima Turbes , Ming-Yow Hung , Chi-Tai Yeh , Patricia K. Nguyen , Karim Sallam , Nazish Sayed , Ian Y. Chen
{"title":"Generation and characterization of three induced pluripotent stem cell lines for modeling coronary artery vasospasm","authors":"Ines Ross Tacco , Joseph Olshausen , Tse Yuan Chan , Naima Turbes , Ming-Yow Hung , Chi-Tai Yeh , Patricia K. Nguyen , Karim Sallam , Nazish Sayed , Ian Y. Chen","doi":"10.1016/j.scr.2024.103644","DOIUrl":"10.1016/j.scr.2024.103644","url":null,"abstract":"<div><div>Coronary artery vasospasm (CAV) is characterized by transient constriction of epicardial coronary arteries leading to angina. Its disease mechanisms are multifactorial but has centered mostly on endothelial dysfunction and smooth muscle hyperreactivity. To facilitate the investigation of these mechanisms in cell culture, we generated and characterized three induced pluripotent stem cell (iPSC) lines from patients with CAV. These lines demonstrated normal morphology and karyotypes, robust expression of pluripotency markers, and ability for tri-lineage differentiation. Further differentiation of these cell lines into endothelial and smooth muscle cells will allow mechanistic investigation of their relative contributions to CAV in cell culture.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"Article 103644"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142898257","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}
Elena F. Evans , Guibin Chen , Ivan Pavlinov , Xiuli Huang , Kaari Linask , Chengyu Liu , Alexander Rodriguez Lopez , Melissa A. Gilbert , Nancy B. Spinner , Steven Rodemse , Karsten Baumgärtele , Catherine Z. Chen , Jizhong Zou , Wei Zheng
{"title":"Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations","authors":"Elena F. Evans , Guibin Chen , Ivan Pavlinov , Xiuli Huang , Kaari Linask , Chengyu Liu , Alexander Rodriguez Lopez , Melissa A. Gilbert , Nancy B. Spinner , Steven Rodemse , Karsten Baumgärtele , Catherine Z. Chen , Jizhong Zou , Wei Zheng","doi":"10.1016/j.scr.2024.103634","DOIUrl":"10.1016/j.scr.2024.103634","url":null,"abstract":"<div><div>Human induced pluripotent stem cell (iPSC) lines TRNDi037-A and TRNDi038-A were generated from the lymphoblastoid cell lines (LCL) of two patients with different heterozygous <em>JAG1</em> variants resulting in Alagille syndrome (ALGS). ALGS is a rare genetic disease of haploinsufficiency that affects the formation of the bile duct, in addition to other symptoms. These ALGS iPSC lines can be used to model ALGS and aid in the identification of therapeutics to treat patients with ALGS.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"Article 103634"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11787771/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885910","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}
Yaping Xu , Hongchun Wu , Jingxiu Jiang , Lingqun Ye , Kaili Hao , Kunjun Han , Shijun Hu , Wei Lei , Zhikun Guo
{"title":"Generation and characterization of the LINC01405 knockout human embryonic stem cell line","authors":"Yaping Xu , Hongchun Wu , Jingxiu Jiang , Lingqun Ye , Kaili Hao , Kunjun Han , Shijun Hu , Wei Lei , Zhikun Guo","doi":"10.1016/j.scr.2024.103619","DOIUrl":"10.1016/j.scr.2024.103619","url":null,"abstract":"<div><div>Long Intergenic Non-Protein Coding RNA 1405 (<em>LINC01405</em>), with known elevated expression in muscle, has been linked to a number of musculo-skeletal conditions. By utilizing the CRISPR/Cas9 gene editing system, we generated a <em>LINC01405</em> knockout human embryonic stem cell (hESC) line. This line remains human stem cell-like morphology and pluripotency, exhibits a normal karyotype, and can differentiate into cells from all three germ layers. This cell line will be an invaluable model for the research on LINC01405's role in normal development of cardiac and skeletal muscle, and their diseases.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"Article 103619"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792445","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}
Mohamed M. Bekhite , Sascha Hübner , Tom Kretzschmar , Claudia Backsch , Anja Weise , Elisabeth Klein , Jürgen Bogoviku , Julian Westphal , P. Christian Schulze
{"title":"Generation of a human induced pluripotent stem cell lines (UKJi003-A) from a patient with Fabry disease and healthy donor (UKJi004-A)","authors":"Mohamed M. Bekhite , Sascha Hübner , Tom Kretzschmar , Claudia Backsch , Anja Weise , Elisabeth Klein , Jürgen Bogoviku , Julian Westphal , P. Christian Schulze","doi":"10.1016/j.scr.2024.103620","DOIUrl":"10.1016/j.scr.2024.103620","url":null,"abstract":"<div><div>Fabry disease (FD, OMIM #301500) is a rare metabolic disorder, X-linked glycosphingolipidosis that is characterized by pathogenic mutations in the <em>GLA</em> (<em>Galactosidase Alpha</em>) gene (OMIM *300644) that result in reduced α-galactosidase A (α-GAL) activity and accumulation of globotriaosylceramide (Gb3) in tissues and organs. Peripheral blood mononuclear cells (PBMCs) were used to generate human induced pluripotent stem cells (hiPSC). UKJi004-A was produced from a healthy donor, whereas UKJi003-A was produced from a patient who had FD with GLA-mutation (IVS6-10G>A). To generate UKJi003-A and UKJi004-A, non-integrating Sendai virus (SeV) vectors expressing four reprogramming factors, OCT4, SOX2, KLF4, and cMYC, were introduced into PBMCs. The pluripotency of the hiPSC lines was confirmed after reprogramming.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"Article 103620"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142864424","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}
Cintia E. Gomez Limia, Karunya Albert, Chaitrali Atre, Kusum Basnet, Darria L. Streeter, Nathalia G. Amado , Linda A. Baker
{"title":"Generation of induced pluripotent stem cell line, NCHi027-A, from a female child with Posterior Cloaca (Type B)","authors":"Cintia E. Gomez Limia, Karunya Albert, Chaitrali Atre, Kusum Basnet, Darria L. Streeter, Nathalia G. Amado , Linda A. Baker","doi":"10.1016/j.scr.2024.103636","DOIUrl":"10.1016/j.scr.2024.103636","url":null,"abstract":"<div><div>Cloaca is an ultra-rare severe anorectal malformation in females where the gastrointestinal, genital, and urologic systems converge. Posterior Cloaca (Type B) is an extremely rare specific variant, where the urogenital sinus opens just anterior to the anus. NCHi027-A is an iPSC line derived from skin fibroblasts of a 4 year and 8-month-old female with Posterior Cloaca (Type B) using Sendai Virus reprogramming. This iPSC line shows typical iPSC morphology, has normal karyotype, expresses pluripotency markers, and can be differentiated into three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"Article 103636"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878027","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}
Sai Wei , Yuting Zhen , Chao Sun , Yanlin Ma , Qi Li , Luan Wen
{"title":"Generation of a USP9Y knockout human embryonic stem cell line with CRISPR-Cas9 technology","authors":"Sai Wei , Yuting Zhen , Chao Sun , Yanlin Ma , Qi Li , Luan Wen","doi":"10.1016/j.scr.2024.103646","DOIUrl":"10.1016/j.scr.2024.103646","url":null,"abstract":"<div><div>Human embryonic stem cell (hESC) lines are vital tools for studying gene function, disease modeling, and therapy. We generated a <em>USP9Y</em> knockout hESC line using CRISPR-Cas9 in the male-derived H1 line. Targeted deletion of the <em>USP9Y</em> gene was confirmed via PCR and sequencing. The modified line retained pluripotency markers, exhibited a normal karyotype, and differentiated into all three germ layers. This model provides a valuable platform for studying USP9Y’s role in human development and male infertility, offering insights into related disorders and therapeutic potential.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"Article 103646"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142915575","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}
Shuaiyan Lu , Ming Chen , Xiaoyu Liu , Jiahang Li , Hui Liu , Shasha Li
{"title":"Generation of a BEST1 Pr-EGFP reporter human embryonic stem cell line via CRISPR/Cas9 editing","authors":"Shuaiyan Lu , Ming Chen , Xiaoyu Liu , Jiahang Li , Hui Liu , Shasha Li","doi":"10.1016/j.scr.2024.103625","DOIUrl":"10.1016/j.scr.2024.103625","url":null,"abstract":"<div><div>The retinal pigment epithelium (RPE) cell, located between the neural retina and choriocapillaris, is vital for retinal maintenance and photoreceptor function. Human embryonic stem cells (hESCs) provide a limitless source of RPE cells for transplantation. Using CRISPR/Cas9, we inserted a fusion of the BEST1 promoter (an RPE-specific marker) and the EGFP gene into the AAVS1 locus to track differentiation in hESC-induced RPE (hESC-iRPE). The resulting gene-edited line, WAe009-A-2 M, maintained a normal karyotype, expressed pluripotency markers, and demonstrated differentiation potential, making it invaluable for RPE development and therapeutic research.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"Article 103625"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142819246","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}
Dan Zhang , Di Huang , Leon M. Larcher , Khine Zaw , Shang-Chih Chen , Luke Jennings , Tina M. Lamey , Jennifer A. Thompson , Terri L. McLaren , Fred K. Chen , Samuel McLenachan
{"title":"Derivation of two induced pluripotent stem cell lines from a healthy control subject","authors":"Dan Zhang , Di Huang , Leon M. Larcher , Khine Zaw , Shang-Chih Chen , Luke Jennings , Tina M. Lamey , Jennifer A. Thompson , Terri L. McLaren , Fred K. Chen , Samuel McLenachan","doi":"10.1016/j.scr.2024.103621","DOIUrl":"10.1016/j.scr.2024.103621","url":null,"abstract":"<div><div>Two human induced pluripotent stem cell lines, LEIi021-A and LEIi021-B, were derived from dermal fibroblasts from a healthy control subject from an Australian Aboriginal family with retinitis pigmentosa-11. Reprogramming was performed using episomal vectors expressing <em>OCT4, SOX2, LIN28, L-MYC, KLF4</em> and <em>mp53DD</em>. Pluripotency markers were expressed in both LEIi021-A and LEIi021-B lines. The two cell lines displayed normal karyotypes and demonstrated the ability to differentiate into embryoid bodies with the three primary germ layers and retinal pigment epithelial cells.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"Article 103621"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792443","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}
{"title":"Generation of human induced pluripotent stem cell lines (iPSC) from adipose-derived mesenchymal stromal cells from two patients with systemic sclerosis","authors":"Mélanie Velier , Romain Appay , Robin Arcani , Romain Desprat , Stéphanie Simoncini , Anouck Zavarro , Danièle Noel , Lenha Bendaass , Christian Jorgensen , Quentin Gomes De Pinho , Audrey Benyamine , Brigitte Granel , Aurélie Daumas , Francoise Dignat George , Florence Sabatier , Jérémy Magalon","doi":"10.1016/j.scr.2024.103624","DOIUrl":"10.1016/j.scr.2024.103624","url":null,"abstract":"<div><div>Systemic sclerosis (SSc) is a rare and complex connective tissue disease associated with high morbidity and mortality. SSc is characterized by ischemic vasculopathy, cutaneous and visceral fibrosis and a dysimmune state (<span><span>Denton and Khanna, 2017</span></span>, <span><span>Volkmann et al., 2023</span></span>, <span><span>Barnes and Mayes, 2012</span></span>). We have derived induced pluripotent stem cell (iPSC) lines from two SSc patients aged 38 and 67 years with severe vascular phenotype. These iPSC lines expressed pluripotent markers, exhibited normal and stable genome, and differentiated into trilineage embryonic layers in teratoma formation assays. These SSc-specific iPSC lines can be differentiated into endothelial cells, providing a valuable model to elucidate vascular dysfunction and develop personalized therapeutic approaches.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"Article 103624"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142795071","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}
Kerstin Filippi, Martin Wiemann, Bernd K. Fleischmann, Michael Hesse
{"title":"Generation of two isogenic control lines by correcting the BAG3 P209L mutation of human induced pluripotent stem cell (hiPSC) lines from patients with myofibrillar myopathy-6","authors":"Kerstin Filippi, Martin Wiemann, Bernd K. Fleischmann, Michael Hesse","doi":"10.1016/j.scr.2024.103627","DOIUrl":"10.1016/j.scr.2024.103627","url":null,"abstract":"<div><div>BAG3 plays a key role in proteostasis as a central component of the chaperone-assisted selective autophagy (CASA) complex. A point mutation (p.P209L; c.626C>T) in the <em>BAG3</em> gene causes severe myofibrillar myopathy-6 (MFM6), restrictive cardiomyopathy and polyneuropathy leading to muscle weakness and heart failure. Establishing suitable controls for patient-derived <em>BAG3<sup>P209L/WT</sup></em>-induced pluripotent stem cells (iPSCs), two isogenic controls were generated by correcting the point mutation c.626C>T in iPSCs from two MFM6-patients. We performed quality control of these lines by differentiation into the three germ layers and pluripotency tests. These isogenic hiPSC-control lines allow the correct analysis of MFM6 using corresponding patient-specific iPSCs.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"Article 103627"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142814309","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}