Haribaskar Ramachandran , Anitha Chirayil Thomas , Stephanie Binder , Barbara Hildebrandt , Pietro Spitali , Andrea Rossi
{"title":"Generation of two iPSC lines with pathogenic DMD nonsense mutations c.4729C>T and c.5713G>T","authors":"Haribaskar Ramachandran , Anitha Chirayil Thomas , Stephanie Binder , Barbara Hildebrandt , Pietro Spitali , Andrea Rossi","doi":"10.1016/j.scr.2025.103789","DOIUrl":"10.1016/j.scr.2025.103789","url":null,"abstract":"<div><div>Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder characterized by progressive degeneration of skeletal and cardiac muscles, typically beginning in early childhood. Here, we describe the generation of two isogenic induced pluripotent stem cell (iPSC) lines engineered using CRISPR-Cas12 to introduce specific nonsense mutations in the <em>DMD</em> gene: c.4729C>T (p.Arg1577Ter) and c.5713G>T (p.Arg1905Ter). The edited iPSC lines retain normal karyotypes, express key pluripotency markers, and exhibit the capacity to differentiate into derivatives of all three germ layers. These models provide powerful tools for investigating DMD pathogenesis, uncovering mechanisms of genetic compensation, and evaluating potential therapeutic strategies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103789"},"PeriodicalIF":0.7,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144769094","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}
Sangho S. Myung , Srinidhi Rao Sripathy , Brady J. Maher
{"title":"Generation of induced pluripotent stem cells from 8 neurotypical individuals with elevated genetic risk for schizophrenia","authors":"Sangho S. Myung , Srinidhi Rao Sripathy , Brady J. Maher","doi":"10.1016/j.scr.2025.103791","DOIUrl":"10.1016/j.scr.2025.103791","url":null,"abstract":"<div><div>Schizophrenia (SCZ) is a common and debilitating mental illness characterized by positive and negative symptoms, and impaired cognition. Genome-wide association studies (GWAS) have identified hundreds of genomic regions containing SCZ risk variants. For each individual, a polygenic risk score (PRS) can be derived, which is a metric of genetic susceptibility for SCZ. Here, we report the generation of human induced pluripotent stem cells (hiPSCs) from 8 neurotypical individuals with elevated PRS. These hiPSC lines will be useful to study common variant risk for SCZ and for the generation of isogenic lines containing rare variants associated with SCZ risk.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103791"},"PeriodicalIF":0.7,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144738694","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}
Gabriele Trentini , Giulia Cazzanelli , Marina Cardano , Orazio Palumbo , Mario Benvenuto , Pietro Palumbo , Francesca Agriesti , Claudia Piccoli , Luciano Conti , DEFEAT-LD Study Group , Massimo Carella , Graziano Lolli , Giuseppe d’Orsi
{"title":"Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patient","authors":"Gabriele Trentini , Giulia Cazzanelli , Marina Cardano , Orazio Palumbo , Mario Benvenuto , Pietro Palumbo , Francesca Agriesti , Claudia Piccoli , Luciano Conti , DEFEAT-LD Study Group , Massimo Carella , Graziano Lolli , Giuseppe d’Orsi","doi":"10.1016/j.scr.2025.103792","DOIUrl":"10.1016/j.scr.2025.103792","url":null,"abstract":"<div><div>An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 24-year-old male patient affected by Lafora disease. The patient is homozygous for the c.721C>T, p.(Arg241*) nonsense variant in the <em>EPM2A</em> gene, which codes for the laforin protein. The generated iPSC line possesses a normal karyotype, expresses pluripotency markers, and can differentiate into derivatives of the three germ layers. It is configured as a useful tool for both disease modeling and therapy development.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103792"},"PeriodicalIF":0.7,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144724474","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}
Haribaskar Ramachandran , Saskia Räuber , Jochen Dobner , Barbara Hildebrandt , Denise Haslinger , Andreas G. Chiocchetti , Paul Disse , Lara-Maria Preuth , Rajeevan Narayanan Therpurakal , Sven G. Meuth , Nico Melzer , Andrea Rossi
{"title":"Reprogramming Patient-Derived urine cells into iPSCs for Anti-GAD65 autoimmune encephalitis research","authors":"Haribaskar Ramachandran , Saskia Räuber , Jochen Dobner , Barbara Hildebrandt , Denise Haslinger , Andreas G. Chiocchetti , Paul Disse , Lara-Maria Preuth , Rajeevan Narayanan Therpurakal , Sven G. Meuth , Nico Melzer , Andrea Rossi","doi":"10.1016/j.scr.2025.103790","DOIUrl":"10.1016/j.scr.2025.103790","url":null,"abstract":"<div><div>Urine cells from a patient with anti-GAD65<!--> <!-->autoantibody-associated autoimmune limbic encephalitis (ALE) were reprogrammed into<!--> <!-->iPSC<!--> <!-->line IUFi020-A. Pluripotency was confirmed through<!--> <!-->hiPSCore analysis while G-banding and CNV<!--> <!-->analysis demonstrated that IUFi020-A exhibits characteristic features of a bona fide iPSC line with no genetic changes compared to the donor urine cells. STR<!--> <!-->analysis further confirmed that IUFi020-A was derived from the parental urine cells. Additional characterization verified the absence of plasmid<!--> <!-->integration and mycoplasma contamination.<!--> <!-->IUFi020-A<!--> <!-->line provides a non-invasive alternative to fibroblast-based reprogramming and serves as a valuable model for investigating the pathogenic mechanisms of anti-GAD65-associated ALE.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103790"},"PeriodicalIF":0.7,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144769095","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}
Yan-Hua Luo , Jian-Yun Ge , Yue Chi , Min Ding , Hui-Ling Wu , Qingjian Zou , Yun-Wen Zheng
{"title":"Generation of human induced pluripotent stem cells with inducible expression of GATA6(Liver cells from hiPSC-GATA6eGFP)","authors":"Yan-Hua Luo , Jian-Yun Ge , Yue Chi , Min Ding , Hui-Ling Wu , Qingjian Zou , Yun-Wen Zheng","doi":"10.1016/j.scr.2025.103784","DOIUrl":"10.1016/j.scr.2025.103784","url":null,"abstract":"<div><div>To address the limitations of conventional strategies for differentiation human induced pluripotent stem cells (hiPSCs) into homogeneous hepatocytes, a doxycycline-inducible <em>GATA6</em>-expressing hiPSC line was developed using the PiggyBac transposon system. This hiPSC line permitted temporal control of <em>GATA6</em> expression, enabling synchronous differentiation into multilineage parenchymal and non-parenchymal liver cells within 18 days. The derived cells demonstrated mature hepatocyte-specific gene expression and sustained albumin secretion. This cell line provides a robust platform for generating functional 3D multilineage liver organoids, and offers new opportunities for mechanistic studies of liver disorders, disease modeling, and regenerative medicine.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103784"},"PeriodicalIF":0.7,"publicationDate":"2025-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144772708","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":"Establishment of a human induced pluripotent stem cell line from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene","authors":"Bin Wang , Wei Song","doi":"10.1016/j.scr.2025.103788","DOIUrl":"10.1016/j.scr.2025.103788","url":null,"abstract":"<div><div>Alagille syndrome (ALGS) is a complex rare genetic disorder that involves multiple organ systems. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a one-year-old boy with Alagille syndrome carrying a heterozygous mutation c.234C > A (p.C78X) in JAG1 gene. This iPSC line was free of exogenous gene, expressed pluripotency markers, exhibited differentiation potential, have normal karyotype and harbored the same mutations found in the patient. This human induced pluripotent stem cell line can be used for in vitro disease modeling and therapy testing.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103788"},"PeriodicalIF":0.7,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144769076","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}
Yingtong Zhai , Jingke Cheng , Xiangge Guo , Xumeng Wang , Min Ma , Shan Wang , Qian Ren
{"title":"Generation of APOE ε3/ε4 and APP-mutant human pluripotent stem cell line derived from an Alzheimer’s patient","authors":"Yingtong Zhai , Jingke Cheng , Xiangge Guo , Xumeng Wang , Min Ma , Shan Wang , Qian Ren","doi":"10.1016/j.scr.2025.103787","DOIUrl":"10.1016/j.scr.2025.103787","url":null,"abstract":"<div><div>Alzheimer’s disease (AD) is a progressive neurodegenerative disorder, with mutations in the <em>amyloid precursor protein (APP)</em> gene and the <em>apolipoprotein E (APOE)</em> gene identified as significant risk factors. Here, we generated induced pluripotent stem cells (iPSCs) from an Alzheimer’s patient carrying heterozygous mutations in <em>APOE</em> (ε3/ε4) and APP. The derived iPSCs exhibited a normal karyotype, expressed pluripotency markers, and demonstrated the capacity to differentiate into the three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103787"},"PeriodicalIF":0.7,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144828199","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 beta actin reporter line (BJNhem20 ACTB-eGFP) in human embryonic stem cells BJNhem20 using CRISPR-Cas9 gene targeting","authors":"Pratiksha P. Bhat , Maneesha S. Inamdar","doi":"10.1016/j.scr.2025.103783","DOIUrl":"10.1016/j.scr.2025.103783","url":null,"abstract":"<div><div>Beta actin is a cytoskeletal protein that contributes to a wide range of cellular processes. Here we generated beta actin reporter knock-in in BJNhem20 human embryonic stem cell line by CRISPR Cas9 gene editing. The reporter mEGFP is integrated at the beta actin locus, tagging the N-terminal of the protein via a linker. The reporter line is a valuable tool to study beta actin dynamics during cellular process in human embryonic stem cells and to track cells by live imaging.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103783"},"PeriodicalIF":0.7,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144738696","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}
Tim Sikora , Myrto Patraskaki , Sara Howden , Alison Graham , John Christodoulou , Carole L. Linster , Nicole J. Van Bergen
{"title":"Generation and characterisation of four human NAD(P)HX epimerase (NAXE) knockout iPSC lines","authors":"Tim Sikora , Myrto Patraskaki , Sara Howden , Alison Graham , John Christodoulou , Carole L. Linster , Nicole J. Van Bergen","doi":"10.1016/j.scr.2025.103782","DOIUrl":"10.1016/j.scr.2025.103782","url":null,"abstract":"<div><div>Pathogenic variants in NAD(P)HX epimerase <em>(NAXE)</em> cause early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1), an ultra-rare severe neurometabolic disorder resulting in death in infancy. The absence of functional NAD(P)HX epimerase leads to accumulation of S- and R-forms of NAD(P)HX, inhibiting key metabolic pathways. We have generated four <em>NAXE</em>-deficient cell lines via simultaneous CRISPR/Cas9-mediated gene knockout (KO) of <em>NAXE</em> and episomal reprogramming of control human fibroblasts into induced pluripotent stem cells (iPSCs). We have demonstrated loss of <em>NAXE</em> gene expression, characterized iPSC pluripotency and differentiation potential into three germ layers. This provides a suitable model for investigating disease mechanisms and therapies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103782"},"PeriodicalIF":0.7,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144769092","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}
Katarzyna A. Ludwik , Valeria Fernandez Valone , Regina Jahn , Sabine Jyrch , Lara Lechner , Peter Kühnen , Harald Stachelscheid
{"title":"Generation of an isogenic iPSC line via CRISPR correction of the POMC:W84X mutation for monogenic obesity modeling","authors":"Katarzyna A. Ludwik , Valeria Fernandez Valone , Regina Jahn , Sabine Jyrch , Lara Lechner , Peter Kühnen , Harald Stachelscheid","doi":"10.1016/j.scr.2025.103786","DOIUrl":"10.1016/j.scr.2025.103786","url":null,"abstract":"<div><div>We report the generation of a genetically corrected induced pluripotent stem cell (iPSC) line, BIHi261-A-1, derived from the patient-specific iPSC line BIHi261-A carrying a homozygous truncating mutation in the POMC gene (POMC:W84X). This mutation causes monogenic obesity by disrupting proopiomelanocortin function. The pathogenic variant was corrected using CRISPR-Cas9 editing. The resulting iPSC line maintained a normal karyotype, expressed pluripotency markers, and retained the ability to differentiate into all three germ layers. BIHi261-A-1 provides valuable isogenic control for disease modeling and therapeutic research targeting POMC-related obesity and hypothalamic regulation of energy homeostasis.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103786"},"PeriodicalIF":0.7,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144769093","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}