Dilated cardiomyopathy (DCM) is a heart muscle disease that causes heart failure and is the leading cause for heart transplantation. It is a heart muscle disease resulted from a variety of genetics, toxic, metabolic, and infectious causes. One of the most prevalent genetic causes of DCM is a protein-truncating variant in the Titin gene (TTNtv). We have generated a human-induced pluripotent stem cell (hiPSC) line from patients who underwent heart transplantation due to DCM carrying a TTNtv mutation (c.70051C > T, p.Arg23351Ter) at the age of 20. The generated hiPSCs showed normal karyotype (46, XY) and expression of pluripotency markers, and were differentiated towards cardiomyocytes successfully.
|Journal||Stem Cell Research|
|Publication status||Published - 2022 Mar|
Bibliographical noteFunding Information:
This work has supported by the National Research Foundation of Korea (NRF) grant funded by the Korea government (MSIT) (No. NRF-2021R1I1A1A01060135, 2019R1C1C1002334, 2018R1D1A1B07049956). This study also was supported by Faculty research grant of Yonsei University College of Medicine (6-2021-0058), and a grant from the Korea Food Research Institute funded by the Ministry of Science, ICT & Future Planning (E0210400). Human stem cell line, CMC-hiPSC-011 was provided by National Stem Cell Bank of Korea (Korea National Institute of Health), originally provided from Catholic University.
© 2021 The Author(s)
All Science Journal Classification (ASJC) codes
- Developmental Biology
- Cell Biology