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


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 2021 Dec 16;59:102629
PubMed 34952434
DOI 10.1016/j.scr.2021.102629

Research Projects

Cell Lines