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}
Franziska Karl-Schöller , Maximilian Breyer , Eva Klopocki , Nurcan Üçeyler
{"title":"Generation of a gene-corrected human isogenic iPSC line from a patient with Fabry disease carrying the GLA variant c.1069C>T using CRISPR/Cas9-mediated homology directed repair","authors":"Franziska Karl-Schöller , Maximilian Breyer , Eva Klopocki , Nurcan Üçeyler","doi":"10.1016/j.scr.2025.103711","DOIUrl":"10.1016/j.scr.2025.103711","url":null,"abstract":"<div><div>Fabry disease (FD) is an X-linked genetic disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency and intracellular globotriaosylceramide (Gb3) accumulation. To study FD-associated pathomechanisms, we generated an isogenic control induced pluripotent stem cell (iPSC) line (IsoFD-1) from a patient-derived FD-iPSC line (FD-1) carrying the GLA c.1069C>T mutation. Using CRISPR/Cas9 gene correction, we restored the wild-type sequence, confirmed by Sanger sequencing and absence of Gb3 deposits. IsoFD-1 exhibited typical pluripotency markers, normal karyotype, and trilineage differentiation capacity. This line provides a valuable tool for investigating Gb3-related cellular dysfunction in FD.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103711"},"PeriodicalIF":0.8,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143823989","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}
Yao Zhang , Zijun Lu , Hao Yang , Lokyu Cheng , Elena Zaklyazminskaya , Olga Sokolova , Hongmei Tan , Joe Z Zhang
{"title":"Generation of stable Cas9-EGFP expressing human induced pluripotent stem cell lines based on SeLection by Essential-gene Exon Knock-in technology","authors":"Yao Zhang , Zijun Lu , Hao Yang , Lokyu Cheng , Elena Zaklyazminskaya , Olga Sokolova , Hongmei Tan , Joe Z Zhang","doi":"10.1016/j.scr.2025.103710","DOIUrl":"10.1016/j.scr.2025.103710","url":null,"abstract":"<div><div>Here, we used SeLection by Essential-gene Exon Knock-in technology to generate the iPSC line with constitutive expression of Cas9-EGFP, while retaining all functions of the essential gene. Cas9-EGFP was inserted into the GAPDH exon9 via the homologous recombination, avoiding Cas9 silencing that often occurs during iPSC differentiation. The edited cell line shows precise knock-in locus with the typical characteristics and pluripotency of iPSCs. Therefore, this iPSC line is valuable for CRISPR screening or related experiments and could be widely used in the CRISPR/Cas9-based gene editing.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103710"},"PeriodicalIF":0.8,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143817586","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}
Yanhui Zhang , Michael Peitz , Bernd K. Fleischmann , Sarah Rieck
{"title":"Generation of a genome-edited EMILIN1 (c.1606C>T) hiPSC line to investigate aortic aneurysm formation in vitro","authors":"Yanhui Zhang , Michael Peitz , Bernd K. Fleischmann , Sarah Rieck","doi":"10.1016/j.scr.2025.103708","DOIUrl":"10.1016/j.scr.2025.103708","url":null,"abstract":"<div><div>Patients with <em>EMILIN1</em> mutations experience a variety of symptoms, such as the formation of aortic aneurysm (AA) and aortic tortuosity. They suffer from early disease onset and severe disease progression with a higher prevalence in males (<span><span>Adamo et al. 2022</span></span>). We generated a homozygous genome-edited human induced pluripotent stem cell (hiPSC) line carrying the <em>EMILIN1</em> c.1606C>T (p.Gln536*) mutation (EMILIN1 C1606T), along with an isogenic control line (mock ctrl.). We assessed the pluripotency of these hiPSC lines and their ability to differentiate into the three germ layers. These cell lines provide a platform for investigating the cellular pathomechanisms associated with <em>EMILIN1</em> c.1606C>T-related cardiovascular diseases.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103708"},"PeriodicalIF":0.8,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143823988","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}
Christos Triantafyllou , Michael Peitz , Bernd K. Fleischmann , Sarah Rieck
{"title":"Generation of a homozygous DNMT3A knock-out hiPSC line for modeling of cardiovascular diseases associated with clonal hematopoiesis of indeterminate potential","authors":"Christos Triantafyllou , Michael Peitz , Bernd K. Fleischmann , Sarah Rieck","doi":"10.1016/j.scr.2025.103707","DOIUrl":"10.1016/j.scr.2025.103707","url":null,"abstract":"<div><div>Mutations associated with clonal hematopoiesis of indeterminate potential (CHIP) have been linked to cardiovascular disease (CVD), with DNA methyltransferase 3A (<em>DNMT3A</em>) being the most commonly mutated gene. (<span><span>Jaiswal et al., 2017</span></span>, <span><span>Abplanalp et al., 2021</span></span>) We generated a genome-edited human induced pluripotent stem cell (hiPSC) line with a homozygous knock-out (KO) of <em>DNMT3A</em>, to mimic loss-of-function mutations, and an isogenic mock-treated control line (mock ctrl). For quality control, we tested the pluripotency of these hiPSC lines and their ability to differentiate into the three germ layers. The generation of these cell lines enables the analysis of cellular pathomechanisms of <em>DNMT3A</em>-related, CHIP-associated CVDs.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103707"},"PeriodicalIF":0.8,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143886027","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}
Denise Sperlich , Katharina Becker , Ulrike Mau-Holzmann , Stefan Liebau , Kevin Achberger
{"title":"Generation and characterization of the iPSC line INDBi001-A from human keratinocytes of a healthy male using Sendai virus reprogramming","authors":"Denise Sperlich , Katharina Becker , Ulrike Mau-Holzmann , Stefan Liebau , Kevin Achberger","doi":"10.1016/j.scr.2025.103709","DOIUrl":"10.1016/j.scr.2025.103709","url":null,"abstract":"<div><div>We generated a fully characterized iPSC line derived from human keratinocytes using Sendai virus-based reprogramming. This integration-free method preserves genomic integrity, enabling the generation of a pluripotent line with robust self-renewal and differentiation capabilities. Comprehensive characterization confirmed the iPSC line’s pluripotency markers, trilineage differentiation potential, and karyotypic normality. This resource provides a valuable tool for disease modeling, drug discovery, and regenerative medicine applications.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103709"},"PeriodicalIF":0.8,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143817585","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}
Dan Zhang , Di Huang , Shang-Chih Chen , Danial Roshandel , Tina M Lamey , Jennifer A Thompson , Terri L McLaren , Fred K Chen , Samuel McLenachan
{"title":"Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant","authors":"Dan Zhang , Di Huang , Shang-Chih Chen , Danial Roshandel , Tina M Lamey , Jennifer A Thompson , Terri L McLaren , Fred K Chen , Samuel McLenachan","doi":"10.1016/j.scr.2025.103705","DOIUrl":"10.1016/j.scr.2025.103705","url":null,"abstract":"<div><div>The human induced pluripotent stem cell line LEIi023-A was generated from a 51-year-old female patient with retinitis pigmentosa 11 (RP11) caused by a single nucleotide deletion in the <em>PRPF31</em> gene, (NM 015629.3: c.267del, p.(Glu89Aspfs*11)). Reprogramming the patient dermal fibroblasts was performed using episomal plasmids expressing reprogramming factors: <em>OCT4</em>, <em>SOX2</em>, <em>KLF4</em>, <em>LMYC</em>, <em>LIN28</em>, p53 shRNA and miR-302/367. LEIi023-A displayed expression of pluripotent stem cell markers, a normal karyotype and capability for differentiation of the three germ layers and retinal pigment epithelial cells.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103705"},"PeriodicalIF":0.8,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143814872","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 and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1)","authors":"Sudipta Mahato , Savitri Maddileti , Trupti Agrawal , Sundaram Acharya , Chitra Kannabiran , Subhadra Jalali , Debojyoti Chakraborty , Indumathi Mariappan","doi":"10.1016/j.scr.2025.103703","DOIUrl":"10.1016/j.scr.2025.103703","url":null,"abstract":"<div><div>Leber congenital amaurosis, Type 12 is an early onset, autosomal recessive retinal disease caused by mutations in <em>RD3</em>. We report the generation of a patient-specific iPSC line (LVPEIi006-B), using Sendai viral vector-based reprogramming approach and an isogenic, mutation-corrected iPSC line (LVPEIi006-B-1), using an en31FnCas9-based adenine base editor (ABE) system. Both lines were clonally expanded and genotyped to confirm the presence of patient-specific mutation and desired base correction in the edited line. Both lines maintained their stemness, pluripotency, genomic integrity and could differentiate into retinal organoids. The mutation-corrected, heterozygous iPSC-derived retinal organoids displayed a partial restoration of normal <em>RD3</em> mRNA splicing.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103703"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143776252","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}