Journal
STEM CELL RESEARCH
Volume 59, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2021.102629
Keywords
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Funding
- National Research Foundation of Korea (NRF) - Korea government (MSIT) [NRF-2021R1I1A1A01060135, 2019R1C1C1002334, 2018R1D1A1B070499 56]
- Faculty research grant of Yonsei University College of Medicine [6-2021-0058]
- Korea Food Research Institute - Ministry of Science, ICT & Future Planning [E0210400]
- National Research Foundation of Korea [2019R1C1C1002334] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
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Dilated cardiomyopathy (DCM) is a heart muscle disease that causes heart failure, and one of the most prevalent genetic causes is a protein-truncating variant in the Titin gene (TTNtv). Researchers have generated hiPSCs from patients who underwent heart transplantation due to DCM carrying a TTNtv mutation, and successfully differentiated them into cardiomyocytes.
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.
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