Generation of a human induced pluripotent stem cell line YCMi004-A from a patient with dilated cardiomyopathy carrying a protein-truncating mutation of the Titin gene and its differentiation towards cardiomyocytes
Summary
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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Lee SH, Oh J, Lee ST, Won D, Kim S, Choi HK, Kim SJ, Han H, Yoon M, Choi JR, Yoon HG, Park SW, Kang SM, Lee SH |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Mar;59:102629 |
| PubMed | 34952434 |
| DOI | 10.1016/j.scr.2021.102629 |