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

IF 0.7 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY
Renke Tan , Yi-Ing Chen , Yanjun Zha , Todd Herron , Francois Haddad , Karim Sallam , Joseph C. Wu
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引用次数: 0

摘要

扩张型心肌病(DCM)是一种以心室增大和收缩功能受损为特征的严重心脏病,通常具有遗传基础。编码肌节蛋白titin的TTN的截短突变是DCM最常见的原因之一。为了在体外模拟titin相关的DCM,我们从诊断为DCM的个体中建立了两个人类诱导多能干细胞(iPSC)系,每个系都在TTN编码区携带一个杂合截断突变。我们已经证实,这两种细胞系在细胞形态上都是正常的,可以表达关键的多能性标记,保持正常的二倍体核型,并且可以分化为所有三个初级胚层。这些患者特异性iPSC细胞系为研究titin相关心肌病的复杂性提供了宝贵的资源。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.
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来源期刊
Stem cell research
Stem cell research 生物-生物工程与应用微生物
CiteScore
2.20
自引率
8.30%
发文量
338
审稿时长
55 days
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.
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