Kerstin Filippi , Isabelle Riße , Luke M. Judge , Bruce R. Conklin , Bernd K. Fleischmann , Michael Hesse
{"title":"Generation and characterization of a human induced pluripotent stem cell (iPSC) line from a patient with BAG3 P209L myofibrillar myopathy-6","authors":"Kerstin Filippi , Isabelle Riße , Luke M. Judge , Bruce R. Conklin , Bernd K. Fleischmann , Michael Hesse","doi":"10.1016/j.scr.2025.103718","DOIUrl":"10.1016/j.scr.2025.103718","url":null,"abstract":"<div><div>Bag3 is important for protein homeostasis in mechanically stressed muscle proteins as member of the chaperone-assisted selective autophagy (CASA) complex. Patients with <em>BAG3</em> <!-->P209L myofibrillar myopathy-6 (MFM6) carry a point mutation (p.P209L; c.626C>T) in the <em>BAG3</em> gene and display clinical features such as restrictive cardiomyopathy, skeletal muscle dystrophy and polyneuropathy. To obtain a representative MFM6-model, biopsies from a female <em>BAG3</em> <!-->P209L-patient were used to generate a human induced pluripotent stem cell (iPSC) line. For quality control, germ layer differentiation and pluripotency analyses were conducted. This iPSC allows us to characterize the pathophysiology of MFM6 and develop innovative experimental therapeutic strategies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103718"},"PeriodicalIF":0.8,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143895874","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Generation of a MYL3 knockout stem cell line (WAe009-A-1H) by episomal vector-based CRISPR/Cas9 system","authors":"Rui Bai , Wei Fu , Xiaojie Hou , Juyi Wan","doi":"10.1016/j.scr.2025.103723","DOIUrl":"10.1016/j.scr.2025.103723","url":null,"abstract":"<div><div>The Myosin light chain 3 (MYL3) gene encodes the ventricular essential light chain isoform, which is an important modulator of sarcomeric myosin cross-bridge kinetics. Variants in MYL3 are a cause of hypertrophic cardiomyopathy and dilated cardiomyopathy with cardiac failure and sudden cardiac death (SCD). To further elucidate the involvement of MYL3 in the pathogenesis of cardiomyopathies, we have created a MYL3 knockout human embryonic stem cell line using the CRISPR/Cas9 system. Notably, this MYL3-knockout cell line retains normal morphology, pluripotency, and karyotype. This resource provides a valuable tool for investigating MYL3-related health and disease.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103723"},"PeriodicalIF":0.8,"publicationDate":"2025-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143886026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Generation of iPSC lines (ICHi001-A, ICHi002-A, ICHi003-A, ICHi004-A) from four patients carrying Titin truncating variants associated with dilated cardiomyopathy","authors":"Cecilia Thairi , Rebecca Artioli , Marianna Paulis , Camilla Galli , Simon Cotič , Alessia Paldino , Ilenia Marino , Gianfranco Sinagra , Chiara Collesi , Matteo Dal Ferro , Elisa Di Pasquale","doi":"10.1016/j.scr.2025.103719","DOIUrl":"10.1016/j.scr.2025.103719","url":null,"abstract":"<div><div>Inherited dilated cardiomyopathy (iDCM) is a disease of the heart muscle, characterized by left ventricle enlargement, systolic dysfunction and arrhythmias. iDCM represents a common cause of heart failure and the most frequent cause of heart transplantation. Among the causative genes, <em>TTN</em>, encoding the sarcomeric protein Titin, represents the most prevalent (about 25 % of cases). The heterogeneous clinical manifestations and variable response to therapy represent a major challenge in patients’ clinical management. To deepen the knowledge of this disease, we generated and fully characterized induced Pluripotent Stem Cell lines from 4 iDCM patients carrying 4 different truncating variants of <em>TTN</em> gene.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103719"},"PeriodicalIF":0.8,"publicationDate":"2025-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143874203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yi-Ing Chen , Arianne Caudal , Amira G. Flores-Banuelos , Christopher D. Yan , Walter G. Park , Mohan Viswanathan , Joseph C. Wu
{"title":"Generation of two induced pluripotent stem cell lines from breast cancer patients carrying BRCA1 mutations","authors":"Yi-Ing Chen , Arianne Caudal , Amira G. Flores-Banuelos , Christopher D. Yan , Walter G. Park , Mohan Viswanathan , Joseph C. Wu","doi":"10.1016/j.scr.2025.103716","DOIUrl":"10.1016/j.scr.2025.103716","url":null,"abstract":"<div><div>Haploinsufficiency of <em>BRCA1</em> increases the risk of various cancers due to its critical functions in cell cycle checkpoint regulation and DNA repair. This study generated and characterized two induced pluripotent stem cell (iPSC) lines derived from breast cancer patients with mutations in the <em>BRCA1</em> gene (c.676del and c.5096G>A). Both lines exhibited typical iPSC morphology, karyotype, pluripotency marker expression, and trilineage differentiation capabilities. <em>BRCA1</em>-mutated iPSCs provide a valuable resource to investigate pathogenic mechanisms and develop personalized medicine.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103716"},"PeriodicalIF":0.8,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143868921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nina Härting , Katarzyna A. Ludwik , Regina Jahn , Frank J. Kaiser , Harald Stachelscheid
{"title":"Generation of hiPSC lines with fusion tagged thyroid hormone receptor α isoforms to study isoform-specific actions of TRα1 and TRα2","authors":"Nina Härting , Katarzyna A. Ludwik , Regina Jahn , Frank J. Kaiser , Harald Stachelscheid","doi":"10.1016/j.scr.2025.103720","DOIUrl":"10.1016/j.scr.2025.103720","url":null,"abstract":"<div><div>The role of the nuclear thyroid hormone receptor TRα1 as a mediator of thyroid hormone action on target gene expression is well understood. However, the function of the TRα2 splicing isoform, which does not bind thyroid hormones, remains unexplored. As no reliable antibodies are available to investigate TRα1 and TRα2 specifically, we introduced small fusion tags into the <em>THRA</em> locus of the male healthy donor iPSC lines BIHi001-B and BIHi005-A by CRISPR/Cas9-mediated genome editing. Consequently, the modified lines express C-terminally tagged TRα1-2xHA or TRα2-3xFLAG. These genome-edited lines facilitate the investigation of isoform-specific actions of TRα in different cell types.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103720"},"PeriodicalIF":0.8,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143868920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tae-Yun Kim , Mi Kyoung Kim , Takeshi Mizuguchi , Naomichi Matsumoto , Jae-Hyeok Lee , Eun-Joo Kim , Na-Yeon Jung
{"title":"Generation of an induced pluripotent stem cell line (PNUYHi003-A) from peripheral blood mononuclear cells of a patient with neuronal intranuclear inclusion disease","authors":"Tae-Yun Kim , Mi Kyoung Kim , Takeshi Mizuguchi , Naomichi Matsumoto , Jae-Hyeok Lee , Eun-Joo Kim , Na-Yeon Jung","doi":"10.1016/j.scr.2025.103717","DOIUrl":"10.1016/j.scr.2025.103717","url":null,"abstract":"<div><div>Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder<!--> <!-->characterized by eosinophilic hyaline intranuclear inclusions in the nervous system. NIID is associated with GGC repeat expansions in the 5′ untranslated<!--> <!-->region of the <em>NOTCH2NLC</em> gene. The induced pluripotent stem cells (iPSC), generated from peripheral blood mononuclear cells of a 75-year-old male patient with NIID, exhibited stem cell marker expression, normal karyotype, absence of viral factors, successful differentiation into the three germ layers, and were analyzed for GGC repeat expansion. These patient-derived iPSCs have promising potential for exploring the genetic mechanisms underlying NIID.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103717"},"PeriodicalIF":0.8,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143859111","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Chen Zhang , Shaoshuai Liang , Bing Zhao , Qingsong Fu , Fengyi Zhang , Xiaotian Ma , Didi Shan , Hongxu Wang , Jianing Li , Ping Sun , Yu Wang , Guoyong Zhang , Ying Hou , Tingjun Dai , Fuchen Liu , Chuanzhu Yan , Kai Shao
{"title":"Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi0010-A) from a patient with Anti-MDA5 antibody-positive dermatomyositis","authors":"Chen Zhang , Shaoshuai Liang , Bing Zhao , Qingsong Fu , Fengyi Zhang , Xiaotian Ma , Didi Shan , Hongxu Wang , Jianing Li , Ping Sun , Yu Wang , Guoyong Zhang , Ying Hou , Tingjun Dai , Fuchen Liu , Chuanzhu Yan , Kai Shao","doi":"10.1016/j.scr.2025.103714","DOIUrl":"10.1016/j.scr.2025.103714","url":null,"abstract":"<div><div>Anti-melanoma differentiation-associated protein 5 (MDA5) antibody-positive dermatomyositis (MDA5-DM) is a subtype of dermatomyositis, potentially triggered by viral infection (Lu et al., 2024). We generated and characterized a human induced pluripotent stem cell (hiPSC) line from skin fibroblasts of a patient with MDA5-DM. Their pluripotency was demonstrated by the expression of multiple pluripotency markers on the RNA and protein levels, as well as their ability to differentiate into all three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103714"},"PeriodicalIF":0.8,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143839149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Adnin Ashrafi , Wendy Runyon , Sam Hu , Ritu Kumar , Timothy Catchpole , Ajeet Singh , Rinki Ratnapriya , Karl G. Csaky , Srinivasa R. Sripathi
{"title":"Generation of human induced pluripotent stem cell lines from an age-related macular degeneration patient with hyperreflective foci overlying drusen (RFSCi002-A) and an unaffected sibling (RFSCi001-A)","authors":"Adnin Ashrafi , Wendy Runyon , Sam Hu , Ritu Kumar , Timothy Catchpole , Ajeet Singh , Rinki Ratnapriya , Karl G. Csaky , Srinivasa R. Sripathi","doi":"10.1016/j.scr.2025.103715","DOIUrl":"10.1016/j.scr.2025.103715","url":null,"abstract":"<div><div>Age-related macular degeneration (AMD) is a leading cause of vision loss, driven by retinal pigment epithelium (RPE) and photoreceptor degeneration. A key feature is drusen accumulation between the RPE and Bruch’s membrane. In intermediate AMD, hyperreflective foci (HRF)—bright intraretinal lesions visible on optical coherence tomography (OCT) imaging—serve as biomarkers of disease progression. To study HRF mechanisms, we generated induced pluripotent stem cell (iPSC) lines from an AMD patient with HRF overlying drusen (RFSC4) and their unaffected sibling (RFSC3). These iPSC models offer a platform to explore disease mechanisms and develop therapies for AMD.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103715"},"PeriodicalIF":0.8,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143864519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Youhui Jiang , Chuqing Zhou , Jun Zhao , Xinyi Ren , Qiang Wang , Peiyan Ni , Tao Li
{"title":"Generation and Characterization of a Human-Derived iPSC line from a female child with First-Episode of sporadic schizophrenia","authors":"Youhui Jiang , Chuqing Zhou , Jun Zhao , Xinyi Ren , Qiang Wang , Peiyan Ni , Tao Li","doi":"10.1016/j.scr.2025.103713","DOIUrl":"10.1016/j.scr.2025.103713","url":null,"abstract":"<div><div>Schizophrenia is a highly heritable neurodevelopmental disorder. In this study, peripheral blood mononuclear cells (PBMCs) were obtained from a female child diagnosed with first-episode of sporadic schizophrenia. Induced pluripotent stem cells (iPSCs) were generated by introducing the reprogramming factors <em>OCT4</em>, <em>SOX2</em>, <em>NANOG</em>, <em>LIN28, c-MYC</em>, <em>KLF4</em>, and <em>SV40LT</em>. The iPSC line was confirmed through karyotyping and the expression of key pluripotency markers. These cells demonstrated the ability to differentiate into all three germ layers <em>in vivo</em>.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103713"},"PeriodicalIF":0.8,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143868922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kerstin Filippi , Martin Wiemann , Stefan Rupp , Michael Peitz , Bernd K. Fleischmann , Michael Hesse
{"title":"Generation of human induced pluripotent stem cell (iPSC) lines from two patients with BAG3 P209L myofibrillar myopathy-6","authors":"Kerstin Filippi , Martin Wiemann , Stefan Rupp , Michael Peitz , Bernd K. Fleischmann , Michael Hesse","doi":"10.1016/j.scr.2025.103712","DOIUrl":"10.1016/j.scr.2025.103712","url":null,"abstract":"<div><div>As member of the chaperone-assisted selective autophagy (CASA) complex, BAG3 is important for the turnover of muscle proteins. Patients with a point mutation at position 626 in the <em>BAG3</em> gene (p.P209L, c.626C>T, Chr.10q26) suffer from polyneuropathy and severe myofibrillar myopathy-6 (MFM6). The latter manifests as skeletal muscle dystrophy and restrictive cardiomyopathy. To model MFM6, we generated two non-isogenic human induced pluripotent stem cell (iPSC) lines from patients with this variant. Pluripotency analyses and germ layer differentiations were performed to check the iPSC quality. These hiPSCs enable the characterization of the pathophysiology of MFM6 and testing of new experimental therapeutic approaches.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103712"},"PeriodicalIF":0.8,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143843010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}