Stem Cell Research (Oct 2022)

Establishment of an induced pluripotent stem cell line (ZJULLi004-A) from a hypertrophic cardiomyopathy patient carrying MYBPC3/c.3764C>A mutation

  • Yaxun Sun,
  • Jingjun Zhou,
  • Hongkun Wang,
  • Hao Wang,
  • Xianzhen Chen,
  • Tingyu Gong,
  • Ping Liang,
  • Chenyang Jiang

Journal volume & issue
Vol. 64
p. 102898

Abstract

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Hypertrophic cardiomyopathy (HCM) is an inherited cardiovascular disease characterized by left ventricular hypertrophy and a high risk of sudden death. In this study, a skin biopsy was obtained from a HCM patient harboring a heterozygous missense mutation (c.3764C>A; p.A1225D) in the myosin binding protein C3 (MYBPC3) gene. The isolated fibroblasts were reprogrammed using non-integrated Sendai viral method to establish the patient-specific induced pluripotent stem cell (iPSC) line. The established iPSC line displayed normal morphology and karyotype, expressed pluripotency markers, and can differentiate into three germ layers in vivo.