Human induced pluripotent stem cell line YCMi007-A generated from a dilated cardiomyopathy patient with a heterozygous dominant c.613C > T (p. Arg205Trp) variant of the TNNT2 gene

Sae-Bom Jeon; Hyoeun Kim; Kyeong-Hyeon Chun; Jaewon Oh; Chulan Kwon; Hyo-Kyoung Choi; Sangwoo Kim; Hyoung-Pyo Kim; In-Cheol Kim; Jung-Yoon Yoo; Sahng Wook Park; Seok-Min Kang; Seung-Hyun Lee

doi:10.1016/j.scr.2023.103048

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Human induced pluripotent stem cell line YCMi007-A generated from a dilated cardiomyopathy patient with a heterozygous dominant c.613C > T (p. Arg205Trp) variant of the TNNT2 gene

Authors: Sae-Bom Jeon ; Hyoeun Kim ; Kyeong-Hyeon Chun ; Jaewon Oh ; Chulan Kwon ; Hyo-Kyoung Choi ; Sangwoo Kim ; Hyoung-Pyo Kim ; In-Cheol Kim ; Jung-Yoon Yoo ; Sahng Wook Park ; Seok-Min Kang ; Seung-Hyun Lee

Citation: STEM CELL RESEARCH, Vol.67 : 103048, 2023-03

Journal Title: STEM CELL RESEARCH

ISSN: 1873-5061

Issue Date: 2023-03

MeSH: Cardiomyopathy, Dilated* / genetics ; Heterozygote ; Humans ; Induced Pluripotent Stem Cells* / metabolism ; Mutation ; Myocytes, Cardiac / metabolism ; Troponin T / genetics ; Troponin T / metabolism

Abstract: Cardiac muscle troponin T protein binds to tropomyosin and regulates the calcium-dependent actin–myosin interaction on thin filaments in cardiomyocytes. Recent genetic studies have revealed that TNNT2 mutations are strongly linked to dilated cardiomyopathy (DCM). In this study, we generated YCMi007-A, a human induced pluripotent stem cell (hiPSC) line from a DCM patient with a p. Arg205Trp mutation in the TNNT2 gene. The YCMi007-A cells show high expression of pluripotent markers, normal karyotype, and differentiation into three germ layers. Thus, YCMi007-A—an established iPSC—could be useful for the investigation of DCM.