人类诱导多能干细胞系YCMi007-A由一名扩张型心肌病患者产生，该患者的TNNT2基因存在杂合显性c.613C>T（p.Arg205Trp）变异。
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.
作者信息
Jeon Sae-Bom, Kim Hyoeun, Chun Kyeong-Hyeon, Oh Jaewon, Kwon Chulan, Choi Hyo-Kyoung, Kim Sangwoo, Kim Hyoung-Pyo, Kim In-Cheol, Yoo Jung-Yoon, Park Sahng Wook, Kang Seok-Min, Lee Seung-Hyun
机构信息
Department of Biochemistry and Molecular Biology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea.
Division of Cardiology, Department of Internal Medicine, National Health Insurance Service Ilsan Hospital, Goyang 10444, South Korea.
出版信息
Stem Cell Res. 2023 Mar;67:103048. doi: 10.1016/j.scr.2023.103048. Epub 2023 Feb 14.
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.
心肌肌钙蛋白T蛋白与原肌球蛋白结合，并调节心肌细胞中细肌丝上钙依赖性肌动蛋白-肌球蛋白的相互作用。最近的遗传学研究表明，TNNT2突变与扩张型心肌病（DCM）密切相关。在本研究中，我们从一名TNNT2基因发生p.Arg205Trp突变的DCM患者中生成了YCMi007-A人诱导多能干细胞（hiPSC）系。YCMi007-A细胞显示多能性标志物高表达、核型正常，并能分化为三个胚层。因此，已建立的iPSC系YCMi007-A可能对DCM的研究有用。
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