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Generation of an induced pluripotent stem cell line (SSMCi001-A) from a dilated cardiomyopathy patient due to mutations in the TTN gene 由TTN基因突变引起的扩张型心肌病患者诱导多能干细胞系（SSMCi001-A）的产生
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-06-30 DOI: 10.1016/j.scr.2025.103763
Xia Li , Yuanxi Wang , Jian Hou , Weixin Li , Yongli Shan , Ning Zhang , Yanli Hu , Cheng Wang , Yan Long
{"title":"Generation of an induced pluripotent stem cell line (SSMCi001-A) from a dilated cardiomyopathy patient due to mutations in the TTN gene","authors":"Xia Li ,&nbsp;Yuanxi Wang ,&nbsp;Jian Hou ,&nbsp;Weixin Li ,&nbsp;Yongli Shan ,&nbsp;Ning Zhang ,&nbsp;Yanli Hu ,&nbsp;Cheng Wang ,&nbsp;Yan Long","doi":"10.1016/j.scr.2025.103763","DOIUrl":"10.1016/j.scr.2025.103763","url":null,"abstract":"<div><div>Dilated cardiomyopathy (DCM) represents a major contributor to heart failure and serves as the primary indication for heart transplantation worldwide. In this study, we generated a human induced pluripotent stem cell (hiPSC) line from a DCM patient harboring triple heterozygous mutations in the titin (TTN) gene, employing non-integrating episomal vectors for reprogramming. The established cell line maintained a normal male karyotype (46, XY), expressed characteristic pluripotency markers, and exhibited robust trilineage differentiation potential in vitro. This disease-specific iPSC model provides a valuable platform for investigating the molecular mechanisms underlying TTN mutation-associated DCM pathogenesis and for developing targeted therapeutic strategies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103763"},"PeriodicalIF":0.8,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144549539","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 Bartter syndrome type 3 patient-derived induced pluripotent stem cell line ISRM-BS3-UM18-iPSC (HHUUKDi014-A) Bartter综合征3型诱导多能干细胞系ISRM-BS3-UM18-iPSC （HHUUKDi014-A）的生成
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-06-28 DOI: 10.1016/j.scr.2025.103760
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":"Generation of a Bartter syndrome type 3 patient-derived induced pluripotent stem cell line ISRM-BS3-UM18-iPSC (HHUUKDi014-A)","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.2025.103760","DOIUrl":"10.1016/j.scr.2025.103760","url":null,"abstract":"<div><div>SIX2-positive urine-derived renal progenitor cells (UdRPCs) were isolated from an 18-year-old Bartter syndrome type 3 (BS3) patient within a homozygous CLCNKB gene deletion. Two episomal-based plasmids expressing OCT4, SOX2, NANOG, KLF4, c-MYC and LIN28 we were able to generate an integration-free induced pluripotent stem cell line (iPSC). Pluripotency was confirmed by fluorescence-activated cell sorting analysis and immunocytochemistry for the markers-OCT4, SOX2, NANOG, TRA-1-60, TRA-1-81 and SSEA4. Embryoid body-based differentiation into the three germ layers was the conducted and confirmed by immunocytochemistry. Pluritest analysis revealed a Pearson correlation of 0,93. Short tandem repeat DNA fingerprinting and karyotype analyses were performed.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103760"},"PeriodicalIF":0.8,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144522908","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 an induced pluripotent stem cell line HHUUKDi013-A (ISRM-AATD-iPSC-3) from a pediatric patient of Alpha-I Antitrypsin Deficiency (AATD) α - 1抗胰蛋白酶缺乏症（AATD）患儿诱导多能干细胞系HHUUKDi013-A （ISRM-AATD-iPSC-3）的生成
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-06-28 DOI: 10.1016/j.scr.2025.103762
Christiane Loerch , Rabea Hokamp , Wasco Wruck , David Katzer , Alexander Weigert , Alexander Machui , Nina Graffmann , Rainer Ganschow , James Adjaye
{"title":"Generation of an induced pluripotent stem cell line HHUUKDi013-A (ISRM-AATD-iPSC-3) from a pediatric patient of Alpha-I Antitrypsin Deficiency (AATD)","authors":"Christiane Loerch ,&nbsp;Rabea Hokamp ,&nbsp;Wasco Wruck ,&nbsp;David Katzer ,&nbsp;Alexander Weigert ,&nbsp;Alexander Machui ,&nbsp;Nina Graffmann ,&nbsp;Rainer Ganschow ,&nbsp;James Adjaye","doi":"10.1016/j.scr.2025.103762","DOIUrl":"10.1016/j.scr.2025.103762","url":null,"abstract":"<div><div>Renal progenitor cells were isolated from urine from a male, pediatric AATD-patient, harboring the homologous Pi*ZZ genotype. SIX2-positive urine derived renal progenitor cells (UdRPCs) were reprogrammed to iPSCs by integration-free nucleofection of episomal-based plasmids expressing <em>OCT4, KLF4</em>, <em>c-MYC</em>, <em>SOX2</em>, <em>NANOG</em> and <em>LIN28</em>. ISRM-AATD-iPSC-3 show pluripotent gene and protein expression, are capable of forming embryoid bodies and carry the parental Pi*ZZ genotype. Global transcriptome analyses revealed a correlation coefficient 0.9091 between the human embryonic stem cell line H9 and ISRM-AATD-iPSC-3.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103762"},"PeriodicalIF":0.8,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518320","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 an induced pluripotent stem cell line (HZSMHCi002-A) from a patient with neuronal intranuclear inclusion disease carrying GGC repeat expansion in the NOTCH2NLC gene 从携带NOTCH2NLC基因GGC重复扩增的神经元核内包涵病患者中产生诱导多能干细胞系(HZSMHCi002-A
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-06-28 DOI: 10.1016/j.scr.2025.103761
Xinyi Ren , Chuqing Zhou , Youhui Jiang , Jun Zhao , Xiaoyi Tina , Naxin Xu , Mengshan Fu , Peiyan Ni , Tao Li , Xiaoying Zhang
{"title":"Generation of an induced pluripotent stem cell line (HZSMHCi002-A) from a patient with neuronal intranuclear inclusion disease carrying GGC repeat expansion in the NOTCH2NLC gene","authors":"Xinyi Ren ,&nbsp;Chuqing Zhou ,&nbsp;Youhui Jiang ,&nbsp;Jun Zhao ,&nbsp;Xiaoyi Tina ,&nbsp;Naxin Xu ,&nbsp;Mengshan Fu ,&nbsp;Peiyan Ni ,&nbsp;Tao Li ,&nbsp;Xiaoying Zhang","doi":"10.1016/j.scr.2025.103761","DOIUrl":"10.1016/j.scr.2025.103761","url":null,"abstract":"<div><div>The NOTCH2NLC gene contains a GGC repeat expansion in its 5′ untranslated region. This expansion is associated with neuronal intranuclear inclusion disease (NIID). NIID is a rare neurodegenerative disorder. Its clinical features include cognitive decline, paroxysmal symptoms, and autonomic dysfunction. We generated an induced pluripotent stem cell (iPSC) line from a female patient’s PBMCs carrying a high GGC repeat expansion in NOTCH2NLC. The iPSC line displayed typical pluripotent morphology. It expressed key pluripotency markers and demonstrated differentiation potential in teratoma assays. This cell line serves as a useful model for studying disease mechanisms and developing therapeutic strategies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103761"},"PeriodicalIF":0.8,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144534411","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 induced pluripotent stem cell line from a familial Alzheimer’s disease patient carrying missense mutations in PSEN1 and MAPT genes 从携带PSEN1和MAPT基因错义突变的家族性阿尔茨海默病患者身上产生的人类诱导多能干细胞系
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-06-25 DOI: 10.1016/j.scr.2025.103759
Ashaq H. Najar , Sofia E. Sepulveda , Camila Gherardelli , Fatemeh Elahian , Amber Fontenot-Roberts , Aleksandar Bajic , David H. Hunter , Claudio Soto , Paul E. Schulz , Abhisek Mukherjee
{"title":"Generation of human induced pluripotent stem cell line from a familial Alzheimer’s disease patient carrying missense mutations in PSEN1 and MAPT genes","authors":"Ashaq H. Najar ,&nbsp;Sofia E. Sepulveda ,&nbsp;Camila Gherardelli ,&nbsp;Fatemeh Elahian ,&nbsp;Amber Fontenot-Roberts ,&nbsp;Aleksandar Bajic ,&nbsp;David H. Hunter ,&nbsp;Claudio Soto ,&nbsp;Paul E. Schulz ,&nbsp;Abhisek Mukherjee","doi":"10.1016/j.scr.2025.103759","DOIUrl":"10.1016/j.scr.2025.103759","url":null,"abstract":"<div><div>Alzheimer’s disease (AD), pathologically characterized by misfolding and accumulation of amyloid beta (Aβ) and hyperphosphorylated tau, is the leading cause of neurodegenerative dementia, accounting for 60–80 % of cases. The familial form of AD is caused by mutations in amyloid precursor protein (<em>APP</em>), presenilin-1 (<em>PSEN1</em>), and presenilin-2 (<em>PSEN2</em>) genes. Here, we report the generation of an iPSC line from a 39-year-old AD patient carrying a missense mutation in <em>PSEN1</em> (F177S), leading to very early onset of AD. The patient also carries a rare variant Q49E in the microtubule-associated protein tau gene (<em>MAPT</em>) with an as yet unknown clinical significance.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103759"},"PeriodicalIF":0.8,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144556645","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
A novel “chassis” PSC line for precise safe harbor site integration via selection-aided RMCE 一种新颖的“底盘”PSC线，通过选择辅助RMCE进行精确的安全港站点集成
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-06-24 DOI: 10.1016/j.scr.2025.103758
Merve Ay , Desi Veleva , Mohammad M. Chowdhury , Andrew B.J. Prowse , Dmitry A. Ovchinnikov
{"title":"A novel “chassis” PSC line for precise safe harbor site integration via selection-aided RMCE","authors":"Merve Ay ,&nbsp;Desi Veleva ,&nbsp;Mohammad M. Chowdhury ,&nbsp;Andrew B.J. Prowse ,&nbsp;Dmitry A. Ovchinnikov","doi":"10.1016/j.scr.2025.103758","DOIUrl":"10.1016/j.scr.2025.103758","url":null,"abstract":"<div><div>We describe here a human pluripotent stem cell line (hPSC) designed to serve as an acceptor (a “chassis” cell line) for the recombination-mediated cassette exchange (RMCE)-mediated precise insertion of DNA fragments into a safe harbor locus. To enable the use of Flp recombinase for directional insertion, we targeted one of the <em>AAVS1</em> safe harbor alleles with an excisable negative selection cassette flanked with FRT and FRT3 sites. The generated hPSC line displayed typical colony morphology, pluripotency signatures and normal karyotype. We expect it to provide a useful AAVS1 safe harbor “landing site” for FRT/FRT3-flanked transgenes.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103758"},"PeriodicalIF":0.8,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144489383","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 and differentiation of an induced pluripotent stem cell line (FMCPGHi006-A) from a patient with Duchenne muscular dystrophy carrying exons 42–43 deletion in the DMD gene 杜氏肌萎缩症患者携带DMD基因外显子42-43缺失的诱导多能干细胞系（fmcpgi006 - a）的生成和分化
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-06-21 DOI: 10.1016/j.scr.2025.103756
Yue Chang , Xiuyi Ai , Ruo Wu , Shu Zhang , Pei Zhang , Shiwen Wu
{"title":"Generation and differentiation of an induced pluripotent stem cell line (FMCPGHi006-A) from a patient with Duchenne muscular dystrophy carrying exons 42–43 deletion in the DMD gene","authors":"Yue Chang ,&nbsp;Xiuyi Ai ,&nbsp;Ruo Wu ,&nbsp;Shu Zhang ,&nbsp;Pei Zhang ,&nbsp;Shiwen Wu","doi":"10.1016/j.scr.2025.103756","DOIUrl":"10.1016/j.scr.2025.103756","url":null,"abstract":"<div><div>Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder characterized by severe progressive muscle atrophy. Although treatments for respiratory complications have improved, dilated cardiomyopathy (DCM) with heart failure remains the leading cause of death in patients with DMD. We generated an induced pluripotent stem cell (iPSC) line from a patient with a deletion of exons 42–43 in the <em>DMD</em> gene and differentiated it into cardiomyocytes (iPSC-CMs). This iPSC line exhibited normal morphology, karyotype, pluripotency marker expression, and trilineage differentiation, while the iPSC-CMs displayed a typical cardiomyocyte morphology and expressed specific markers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103756"},"PeriodicalIF":0.8,"publicationDate":"2025-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144470347","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
A high-throughput workflow for assessing self-renewal using colony formation assays 使用菌落形成分析来评估自我更新的高通量工作流程
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-06-19 DOI: 10.1016/j.scr.2025.103757
Majd A. Al-Hamaly , Jessica S. Blackburn
{"title":"A high-throughput workflow for assessing self-renewal using colony formation assays","authors":"Majd A. Al-Hamaly ,&nbsp;Jessica S. Blackburn","doi":"10.1016/j.scr.2025.103757","DOIUrl":"10.1016/j.scr.2025.103757","url":null,"abstract":"<div><div>The colony formation assay (CFA) is a widely used method to assess the self-renewal capacity of cancer cells and evaluate how this property is affected by drug treatment. This protocol presents a streamlined, high-throughput CFA workflow optimized for T-cell acute lymphoblastic leukemia (T-ALL), making it suitable for large-scale drug screening projects. Colonies are grown in a methylcellulose-based 3D matrix and quantified using an automated analysis pipeline, allowing robust estimation of colony number and size. This cost-effective approach provides a scalable platform for identifying compounds that impair self-renewal, facilitating prioritization of hits for validation in more complex <em>in vivo</em> models.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103757"},"PeriodicalIF":0.8,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144480560","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 set of genetically modified long QT syndrome induced pluripotent stem cell lines carrying knock-in variants rs120074178 (KCNQ1 c.569G > A; p.Arg190Gln) and rs137854600 (SCN5A c.4865G > A; p.Arg1622Gln) and isogenic control lines 一组携带敲入变异rs120074178 （KCNQ1 c.569G > a）的转基因长QT综合征诱导的多能干细胞系的产生p.Arg190Gln)和rs137854600 (SCN5A c.4865G > A；p.Arg1622Gln)和等基因控制系
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-06-18 DOI: 10.1016/j.scr.2025.103755
Nayara Sousa da Silva , Agnieszka D’Antonio-Chronowska , Reyna Hernandez-Benitez , Angelina Rose McCarron , Esra Karaca , Kai Fang , Juan Carlos Izpisua Belmonte , Athanasia D. Panopoulos , Keiichiro Suzuki , Kelly A. Frazer
{"title":"Generation of a set of genetically modified long QT syndrome induced pluripotent stem cell lines carrying knock-in variants rs120074178 (KCNQ1 c.569G > A; p.Arg190Gln) and rs137854600 (SCN5A c.4865G > A; p.Arg1622Gln) and isogenic control lines","authors":"Nayara Sousa da Silva ,&nbsp;Agnieszka D’Antonio-Chronowska ,&nbsp;Reyna Hernandez-Benitez ,&nbsp;Angelina Rose McCarron ,&nbsp;Esra Karaca ,&nbsp;Kai Fang ,&nbsp;Juan Carlos Izpisua Belmonte ,&nbsp;Athanasia D. Panopoulos ,&nbsp;Keiichiro Suzuki ,&nbsp;Kelly A. Frazer","doi":"10.1016/j.scr.2025.103755","DOIUrl":"10.1016/j.scr.2025.103755","url":null,"abstract":"<div><div>Long QT syndrome (LQTS) is an inherited channelopathy characterized by life-threatening arrhythmias. LQTS has many subtypes defined by the gene that contains the mutation, including LQT1 (<em>KCNQ1</em>), LQT2 (<em>KCNH2</em>), and LQT3 (<em>SCN5A</em>). Here, we used CRISPR/Cas9 technology to generate five isogenic human induced pluripotent stem cell (iPSC) lines, one line harboring an LQT1 variant rs120074178 (<em>KCNQ1</em> c.569G &gt; A), two lines harboring an LQT3 variant rs137854600 (<em>SCN5A</em> c.4865G &gt; A), and two derived control lines.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103755"},"PeriodicalIF":0.8,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144366354","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 and characterization of human iPSC lines from two patients with therapy-resistant epilepsy carrying nonsense heterozygous variants in the SMC1A gene 携带SMC1A基因无意义杂合变异体的两例治疗性癫痫患者的人类iPSC系的产生和特性
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-06-16 DOI: 10.1016/j.scr.2025.103752
Marianna Paulis , Maddalena Di Nardo , Lucia Susani , Angela La Grua , Antonio Musio
{"title":"Generation and characterization of human iPSC lines from two patients with therapy-resistant epilepsy carrying nonsense heterozygous variants in the SMC1A gene","authors":"Marianna Paulis ,&nbsp;Maddalena Di Nardo ,&nbsp;Lucia Susani ,&nbsp;Angela La Grua ,&nbsp;Antonio Musio","doi":"10.1016/j.scr.2025.103752","DOIUrl":"10.1016/j.scr.2025.103752","url":null,"abstract":"<div><div>Different <em>SMC1A</em> variants contribute to a spectrum of phenotypes. Missense or small in-frame deletions are associated with Cornelia de Lange syndrome (CdLS) while <em>SMC1A</em> truncation variants have been detected in subjects with a clinical phenotype different from CdLS, with moderate-to-severe intellectual disability (ID) and pharmaco-resistant epilepsy. We generated two human iPSC lines from two patients with pharmaco-resistant epilepsy carrying nonsense heterozygous c.901C &gt; T (p.E323*) and c.3103C &gt; T (p.R1035*) variants in the <em>SMC1A</em> gene. These cell lines will be a valuable resource for <em>in vitro</em> disease modeling and drug testing for pharmaco-resistant epilepsy due to <em>SMC1A</em> variants.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103752"},"PeriodicalIF":0.8,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144314398","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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