Renke Tan , Yi-Ing Chen , Yanjun Zha , Todd Herron , Francois Haddad , Karim Sallam , Joseph C. Wu
{"title":"来自携带TTN突变的扩张型心肌病患者的两种诱导多能干细胞系的产生","authors":"Renke Tan , Yi-Ing Chen , Yanjun Zha , Todd Herron , Francois Haddad , Karim Sallam , Joseph C. Wu","doi":"10.1016/j.scr.2025.103834","DOIUrl":null,"url":null,"abstract":"<div><div>Dilated cardiomyopathy (DCM) is a severe form of heart disease characterized by ventricular enlargement and impaired contractile function, often with a genetic basis. Truncating mutations in <em>TTN</em>, encoding the sarcomere protein titin, are one of the most common causes of DCM. To model titin-related DCM <em>in vitro</em>, we have established two human induced pluripotent stem cell (iPSC) lines from individuals who were diagnosed with DCM, each carrying a heterozygous truncating mutation within <em>the TTN</em> coding region. We have confirmed that both cell lines are normal in cell morphology, robustly express key pluripotency markers, maintain a normal diploid karyotype, and can differentiate into all three primary germ layers. These patient-specific iPSC lines represent an invaluable resource for investigating the complexity of titin-related cardiomyopathy.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103834"},"PeriodicalIF":0.7000,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients harbouring TTN mutations\",\"authors\":\"Renke Tan , Yi-Ing Chen , Yanjun Zha , Todd Herron , Francois Haddad , Karim Sallam , Joseph C. Wu\",\"doi\":\"10.1016/j.scr.2025.103834\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Dilated cardiomyopathy (DCM) is a severe form of heart disease characterized by ventricular enlargement and impaired contractile function, often with a genetic basis. Truncating mutations in <em>TTN</em>, encoding the sarcomere protein titin, are one of the most common causes of DCM. To model titin-related DCM <em>in vitro</em>, we have established two human induced pluripotent stem cell (iPSC) lines from individuals who were diagnosed with DCM, each carrying a heterozygous truncating mutation within <em>the TTN</em> coding region. We have confirmed that both cell lines are normal in cell morphology, robustly express key pluripotency markers, maintain a normal diploid karyotype, and can differentiate into all three primary germ layers. These patient-specific iPSC lines represent an invaluable resource for investigating the complexity of titin-related cardiomyopathy.</div></div>\",\"PeriodicalId\":21843,\"journal\":{\"name\":\"Stem cell research\",\"volume\":\"88 \",\"pages\":\"Article 103834\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2025-09-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Stem cell research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1873506125001849\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"BIOTECHNOLOGY & APPLIED MICROBIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Stem cell research","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1873506125001849","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}
Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients harbouring TTN mutations
Dilated cardiomyopathy (DCM) is a severe form of heart disease characterized by ventricular enlargement and impaired contractile function, often with a genetic basis. Truncating mutations in TTN, encoding the sarcomere protein titin, are one of the most common causes of DCM. To model titin-related DCM in vitro, we have established two human induced pluripotent stem cell (iPSC) lines from individuals who were diagnosed with DCM, each carrying a heterozygous truncating mutation within the TTN coding region. We have confirmed that both cell lines are normal in cell morphology, robustly express key pluripotency markers, maintain a normal diploid karyotype, and can differentiate into all three primary germ layers. These patient-specific iPSC lines represent an invaluable resource for investigating the complexity of titin-related cardiomyopathy.
期刊介绍:
Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.