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Generation of four human induced pluripotent stem cell lines from functionally distinct T cell lineages with defined or undefined T cell receptor specificity 从功能不同的T细胞系中产生四种人类诱导多能干细胞系，具有定义或未定义的T细胞受体特异性
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-08-22 DOI: 10.1016/j.scr.2025.103813
Marcel Finke , Christopher Kressler , Kristin Fischer , Valeria Fernández Vallone , Ulrik Stervbo , Julian Uszkoreit , Nina Babel , Leila Amini , Michael Schmueck-Henneresse , Harald Stachelscheid , Julia K. Polansky
{"title":"Generation of four human induced pluripotent stem cell lines from functionally distinct T cell lineages with defined or undefined T cell receptor specificity","authors":"Marcel Finke ,&nbsp;Christopher Kressler ,&nbsp;Kristin Fischer ,&nbsp;Valeria Fernández Vallone ,&nbsp;Ulrik Stervbo ,&nbsp;Julian Uszkoreit ,&nbsp;Nina Babel ,&nbsp;Leila Amini ,&nbsp;Michael Schmueck-Henneresse ,&nbsp;Harald Stachelscheid ,&nbsp;Julia K. Polansky","doi":"10.1016/j.scr.2025.103813","DOIUrl":"10.1016/j.scr.2025.103813","url":null,"abstract":"<div><div>T lymphocytes are key contributors to the adaptive immune system. During development, tightly regulated T cell receptor (TCR) gene rearrangement determines antigen specificity and maturation into distinct lineages with pro- or anti-inflammatory functions. From two male donors, we generated four hiPSC lines from isolated T cell lineages (CD4+ conventional helper, CD4+ regulatory, CD8+ cytotoxic). Two lines harbor genetically pre-rearranged TCRs specific to an allogeneic cell line. All lines were generated by integration-free reprogramming using Sendai virus and underwent characterization and quality control. They represent a valuable platform to investigate how a rearranged and pre-selected TCR influences lymphoid differentiation and function.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103813"},"PeriodicalIF":0.7,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144907670","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}
引用次数: 0
Generation of the induced pluripotent stem cell line IOCVi002-A from a patient with the FOXE3-related sclerocornea-aphakia malformation 诱导多能干细胞系IOCVi002-A从foxe3相关的无晶状体硬角膜畸形患者的生成
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-08-22 DOI: 10.1016/j.scr.2025.103816
Jessica Nava , Guillermo Galvez-Romero , German Mora-Roldan , Oscar J. Parada-Parra , Arturo Hernandez-Cruz , Juan Carlos Zenteno
{"title":"Generation of the induced pluripotent stem cell line IOCVi002-A from a patient with the FOXE3-related sclerocornea-aphakia malformation","authors":"Jessica Nava ,&nbsp;Guillermo Galvez-Romero ,&nbsp;German Mora-Roldan ,&nbsp;Oscar J. Parada-Parra ,&nbsp;Arturo Hernandez-Cruz ,&nbsp;Juan Carlos Zenteno","doi":"10.1016/j.scr.2025.103816","DOIUrl":"10.1016/j.scr.2025.103816","url":null,"abstract":"<div><div>Anterior segment dysgeneses (ASDs) are a heterogeneous group of ocular developmental anomalies commonly associated with severe visual disability in pediatric age. Here, we report the generation of the iPSC line IOCVi002-A from a patient with a homozygous pathogenic c.292 T &gt; C (p.(Y98H)) variant in the <em>FOXE3</em> gene causing an ASD phenotype characterized by sclerocornea and aphakia. IOCVi002-A cells shows normal morphology, typical stemness and pluripotency. This iPSC line can be used for <em>in vitro</em> disease modeling for developmental ocular anomalies affecting anterior structures of the eye.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103816"},"PeriodicalIF":0.7,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144888730","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}
引用次数: 0
Generation of patient-derived and gene-corrected hiPSC lines from Hereditary Hemorrhagic Telangiectasia type 2 patients with ACVRL1 c.1042delG mutation 来自ACVRL1 c.1042delG突变的遗传性出血性毛细血管扩张2型患者的患者源性和基因校正的hiPSC系的产生
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-08-21 DOI: 10.1016/j.scr.2025.103812
Kendy E. Urdaneta , Francijna E. van den Hil , Marga J. Bouma , Herak Manjikian , Christine L. Mummery , Christian M.A.H. Freund , Valeria V. Orlova , Sebastiaan J. van Kampen
{"title":"Generation of patient-derived and gene-corrected hiPSC lines from Hereditary Hemorrhagic Telangiectasia type 2 patients with ACVRL1 c.1042delG mutation","authors":"Kendy E. Urdaneta ,&nbsp;Francijna E. van den Hil ,&nbsp;Marga J. Bouma ,&nbsp;Herak Manjikian ,&nbsp;Christine L. Mummery ,&nbsp;Christian M.A.H. Freund ,&nbsp;Valeria V. Orlova ,&nbsp;Sebastiaan J. van Kampen","doi":"10.1016/j.scr.2025.103812","DOIUrl":"10.1016/j.scr.2025.103812","url":null,"abstract":"<div><div>Hereditary Hemorrhagic Telangiectasia type 2 (HHT2) is a vascular disorder caused by mutations in <em>ACVRL1</em>. We generated human induced pluripotent stem cell (hiPSC) lines from two HHT2 patients with a heterozygous 1 bp deletion in exon 7 of <em>ACVRL1</em> (c.1042delG) by reprogramming skin fibroblasts. Gene-corrected isogenic hiPSCs were created using CRISPR-Cas9. All lines displayed normal karyotypes, expressed markers of the undifferentiated state, differentiated into all germ layers <em>in vitro</em>, and showed no off-target effects. These patient-derived, genetically matched hiPSC pairs provide a robust platform for modeling HHT2 <em>in vitro</em> and investigating molecular mechanisms of pathogenesis.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103812"},"PeriodicalIF":0.7,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144907668","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}
引用次数: 0
Generation of human embryonic stem cell line expressing dCas9-TET1 fusion protein for epigenetic editing 表达dCas9-TET1融合蛋白的人胚胎干细胞系用于表观遗传编辑
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-08-20 DOI: 10.1016/j.scr.2025.103811
Ji-Woo Kim, Seongyea Jo, Eun-Hye Kang, Ji Hyeon Ryu, Haneul Noh, Han-Jin Park, Hyemin Kim
{"title":"Generation of human embryonic stem cell line expressing dCas9-TET1 fusion protein for epigenetic editing","authors":"Ji-Woo Kim,&nbsp;Seongyea Jo,&nbsp;Eun-Hye Kang,&nbsp;Ji Hyeon Ryu,&nbsp;Haneul Noh,&nbsp;Han-Jin Park,&nbsp;Hyemin Kim","doi":"10.1016/j.scr.2025.103811","DOIUrl":"10.1016/j.scr.2025.103811","url":null,"abstract":"<div><div>CRISPR-based epigenome editing systems can induce site-specific transcriptional activation or repression of target genes. Ten-eleven translocation methylcytosine dioxygenase 1 (TET1) is a transcriptional activation effector involved in the cytosine demethylation of CpG dinucleotides in gene regulatory regions. In this study, we generated a human embryonic stem cell line that stably expresses catalytically dead Cas9 (dCas9) fused to the catalytic domain of TET1 via lentiviral transduction. This cell line can be used for locus-specific transcriptional activation in combination with single guide RNAs and serves as a valuable tool for epigenetic regulation in stem cell and organoid models.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103811"},"PeriodicalIF":0.7,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144889601","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}
引用次数: 0
Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8 人类iPSC系INMi007-A的产生，携带与8型眼皮肤白化病相关的复合杂合DCT变异
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-08-20 DOI: 10.1016/j.scr.2025.103810
Daria Mamaeva , Nejla Erkilic , Christel Vaché , Jérôme Prados , Laurent Guillou , Anne-Françoise Roux , Isabelle Meunier , Sandrine Marlin , Sophie Javerzat , Benoit Arveiler , Vasiliki Kalatzis
{"title":"Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8","authors":"Daria Mamaeva ,&nbsp;Nejla Erkilic ,&nbsp;Christel Vaché ,&nbsp;Jérôme Prados ,&nbsp;Laurent Guillou ,&nbsp;Anne-Françoise Roux ,&nbsp;Isabelle Meunier ,&nbsp;Sandrine Marlin ,&nbsp;Sophie Javerzat ,&nbsp;Benoit Arveiler ,&nbsp;Vasiliki Kalatzis","doi":"10.1016/j.scr.2025.103810","DOIUrl":"10.1016/j.scr.2025.103810","url":null,"abstract":"<div><div>Pathogenic variants in the Dopachrome tautomerase (<em>DCT</em>) gene (NM_001129889.2) have recently been associated with a novel oculocutaneous albinism (OCA) subgroup, type 8 (OCA8). Here, we report the establishment of an induced pluripotent stem cell (iPSC) line, INMi007-A, derived from the skin fibroblasts of an individual compound heterozygous for two pathogenic variants in <em>DCT</em>, using the non-integrative Sendai virus reprogramming method. This iPSC line harbors a single-nucleotide variant in exon 1 of <em>DCT</em> (c.118T &gt; A; p.(Cys40Ser)) and a 14-bp deletion in exon 9 (c.1406_1419del; p.(Phe469*)). This cell line represents an important tool for studying the pathophysiology of OCA8.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103810"},"PeriodicalIF":0.7,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144902636","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}
引用次数: 0
Characterisation of the induced pluripotent stem cell line NIMHi012-A derived from PBMCs of an epilepsy patient with a pathogenic variant in SCN1A gene 诱导多能干细胞系NIMHi012-A的鉴定来源于一名SCN1A基因致病性变异的癫痫患者的pbmc
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-08-19 DOI: 10.1016/j.scr.2025.103809
Madhura Milind Nimonkar , Ramya Sukrutha , Kenchaiah Raghavendra , Hansashree Padmanabha , Ghati K. Chetan , Bhupesh Mehta , Yogananda S. Markandeya , Gautham Arunachal
{"title":"Characterisation of the induced pluripotent stem cell line NIMHi012-A derived from PBMCs of an epilepsy patient with a pathogenic variant in SCN1A gene","authors":"Madhura Milind Nimonkar ,&nbsp;Ramya Sukrutha ,&nbsp;Kenchaiah Raghavendra ,&nbsp;Hansashree Padmanabha ,&nbsp;Ghati K. Chetan ,&nbsp;Bhupesh Mehta ,&nbsp;Yogananda S. Markandeya ,&nbsp;Gautham Arunachal","doi":"10.1016/j.scr.2025.103809","DOIUrl":"10.1016/j.scr.2025.103809","url":null,"abstract":"<div><div>We report successful characterisation of the iPSC line NIMHi012-A, generated from the PBMCs of a patient with generalized epilepsy with febrile seizures plus (GEFS+). The mycoplasma-free cells expressed pluripotency markers, showed trilineage differentiation potential and had a normal karyotype. This cell line will serve as a platform to investigate the disease mechanism and develop novel patient-specific therapeutic strategies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103809"},"PeriodicalIF":0.7,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144886203","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}
引用次数: 0
Generation of two Betacellulin CRISPR-Cas9 knockout hiPSC lines to study the affected EGF system paradigm in schizophrenia 生成两个Betacellulin CRISPR-Cas9敲除的hiPSC系，研究精神分裂症中受影响的EGF系统范式
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-08-19 DOI: 10.1016/j.scr.2025.103808
Agustin Cota-Coronado , Murray Manning , Dong-Hyung Kim , Joohyung Lee , Andrew Gibbons , Joseph Rosenbluh , Rachel A. Hill , Suresh Sundram
{"title":"Generation of two Betacellulin CRISPR-Cas9 knockout hiPSC lines to study the affected EGF system paradigm in schizophrenia","authors":"Agustin Cota-Coronado ,&nbsp;Murray Manning ,&nbsp;Dong-Hyung Kim ,&nbsp;Joohyung Lee ,&nbsp;Andrew Gibbons ,&nbsp;Joseph Rosenbluh ,&nbsp;Rachel A. Hill ,&nbsp;Suresh Sundram","doi":"10.1016/j.scr.2025.103808","DOIUrl":"10.1016/j.scr.2025.103808","url":null,"abstract":"<div><div>Several members of the epidermal growth factor (EGF) family have been implicated in the biology of schizophrenia (<span><span>Ketharanathan et al., 2024</span></span>). The EGF-related ligand, Betacellulin (BTC), plays an important role in the proliferation and differentiation of neural stem cells and our group found markedly reduced BTC levels in patients with schizophrenia. Nevertheless, the interplay of affected BTC and its participation in neural specification and neurodevelopment remains elusive. We generated Knockout (KO) − BTC clones from an existing hiPSC line through CRISPR/Cas9-mediated modification. Furthermore, we validated BTC-KO through genotyping/sequencing, FACS and Western Blot. Finally, we demonstrated trilineage differentiation potential in vitro.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103808"},"PeriodicalIF":0.7,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144888729","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}
引用次数: 0
POLR3 gene and protein expression dynamics in 4H leukodystrophy using iPSC-derived neuronal lineages 利用ipsc衍生的神经元谱系研究4H脑白质营养不良的POLR3基因和蛋白表达动态
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-08-18 DOI: 10.1016/j.scr.2025.103805
Liza M.L. Kok , Heiletjé van Zyl , Felice Götte , Evanne Lichtendahl , Nicole Breeuwsma , Nicole I. Wolf , Vivi M. Heine
{"title":"POLR3 gene and protein expression dynamics in 4H leukodystrophy using iPSC-derived neuronal lineages","authors":"Liza M.L. Kok ,&nbsp;Heiletjé van Zyl ,&nbsp;Felice Götte ,&nbsp;Evanne Lichtendahl ,&nbsp;Nicole Breeuwsma ,&nbsp;Nicole I. Wolf ,&nbsp;Vivi M. Heine","doi":"10.1016/j.scr.2025.103805","DOIUrl":"10.1016/j.scr.2025.103805","url":null,"abstract":"<div><div>Induced pluripotent stem cell (iPSC) technology offered new tools for studying disease mechanisms by modeling patient-specific genetics in disease-relevant cell types. Here, we focus on 4H leukodystrophy, a genetic brain white matter disorder linked to <em>POLR3</em> variants with distinct clinical characteristics, which manifests with considerable clinical variability. Although 4H leukodystrophy primarily features white matter abnormalities, emerging research highlights the involvement of neuronal pathology. To address this, we analyzed mRNA and protein expression of the POLR3A and POLR3B genes throughout neuronal lineage differentiation, from the iPSC state to neuroepithelial stem cells (NES) and mature neurons. When compared across cell types, we identified elevated POLR3 gene expression in NES. However, when compared by disease status, Pol III protein levels were notably reduced in 4H patient cells. Despite these protein-level alterations, overall <em>Pol III</em> transcript levels, including tRNAs and <em>BC200</em> RNA were unchanged in 4H cells. Notably, patient-specific genetic backgrounds were found to have a significant impact on <em>POLR3A</em> expression. These results underscore the necessity of considering individual genetic backgrounds and specific developmental cell states when investigating the pathology of 4H leukodystrophy. Furthermore, our work demonstrates the utility of iPSC-based models in unraveling patient-specific disease mechanisms, thereby facilitating the development of more tailored therapeutic strategies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103805"},"PeriodicalIF":0.7,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144925912","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}
引用次数: 0
Corrigendum to “Generation of a Bartter syndrome type 3 patient-derived induced pluripotent stem cell line ISRM-BS3_UM18-iPSC (HHUUKDi014-A)” [Stem Cell Res. 87 (2025) 103760] “Bartter综合征3型患者来源的诱导多能干细胞系ISRM-BS3_UM18-iPSC （HHUUKDi014-A）的产生”的勘误表[stem cell Res. 87 (2025) 103760]
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-08-15 DOI: 10.1016/j.scr.2025.103804
Chantelle Thimm , Chutong Zhong , Wasco Wruck , Alessandra Grillo , Rosanne Mack , Martina Bohndorf , Nina Graffmann , Anson Tang , Viola D’Ambrosio , Elizabeth R. Wan , Keith Siew , Rhys D. Evans , Stephan B. Walsh , James Adjaye
{"title":"Corrigendum to “Generation of a Bartter syndrome type 3 patient-derived induced pluripotent stem cell line ISRM-BS3_UM18-iPSC (HHUUKDi014-A)” [Stem Cell Res. 87 (2025) 103760]","authors":"Chantelle Thimm ,&nbsp;Chutong Zhong ,&nbsp;Wasco Wruck ,&nbsp;Alessandra Grillo ,&nbsp;Rosanne Mack ,&nbsp;Martina Bohndorf ,&nbsp;Nina Graffmann ,&nbsp;Anson Tang ,&nbsp;Viola D’Ambrosio ,&nbsp;Elizabeth R. Wan ,&nbsp;Keith Siew ,&nbsp;Rhys D. Evans ,&nbsp;Stephan B. Walsh ,&nbsp;James Adjaye","doi":"10.1016/j.scr.2025.103804","DOIUrl":"10.1016/j.scr.2025.103804","url":null,"abstract":"","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103804"},"PeriodicalIF":0.7,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144842552","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}
引用次数: 0
Establishment of an induced pluripotent stem cell (iPSC) line (INNDSUi011-A) from a patient with autosomal dominant spastic paraplegia 9A due to ALDH18A1 mutation 从ALDH18A1突变引起的常染色体显性痉挛性截瘫9A患者身上建立诱导多能干细胞（INNDSUi011-A）系
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-08-14 DOI: 10.1016/j.scr.2025.103807
Didi Shan , Hongxu Wang , Jianing Li , Yu Wang , Fuchen Liu
{"title":"Establishment of an induced pluripotent stem cell (iPSC) line (INNDSUi011-A) from a patient with autosomal dominant spastic paraplegia 9A due to ALDH18A1 mutation","authors":"Didi Shan ,&nbsp;Hongxu Wang ,&nbsp;Jianing Li ,&nbsp;Yu Wang ,&nbsp;Fuchen Liu","doi":"10.1016/j.scr.2025.103807","DOIUrl":"10.1016/j.scr.2025.103807","url":null,"abstract":"<div><div>We used a non-integrated reprogramming approach to establish a human induced pluripotent stem cell (hiPSC) line (INNDSUi011-A) from the skin fibroblasts of a 38-year-old female individual with autosomal dominant spastic paraplegia 9A due to ALDH18A1<!--> <!-->mutation. The cells obtained demonstrate key characteristics of embryonic stem cells, including the expression of specific pluripotency markers and the capacity to differentiate into the three germ layers in vitro. This iPSC cell line retains the patient’s genetic information, making it a valuable model for studying disease mechanisms and developing novel therapies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103807"},"PeriodicalIF":0.7,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144885396","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}
引用次数: 0
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