Stem Cell Research (Mar 2022)

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

  • Sun-Ho Lee,
  • Jaewon Oh,
  • Seung-Tae Lee,
  • Dongju Won,
  • Sangwoo Kim,
  • Hyo-Kyoung Choi,
  • Seok-Jun Kim,
  • Hyunho Han,
  • Minjae Yoon,
  • Jong Rak Choi,
  • Ho-Geun Yoon,
  • Sahng Wook Park,
  • Seok-Min Kang,
  • Seung-Hyun Lee

Journal volume & issue
Vol. 59
p. 102629

Abstract

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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.