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
oleh: 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
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2023-03-01 |
Deskripsi
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.