Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy


  • N. Warnecke
  • B.M. Ulmer
  • S.D. Laufer
  • A. Shibamiya
  • E. Krämer
  • C. Neuber
  • S. Hanke
  • C. Behrens
  • M. Loos
  • J. Münch
  • J. Kühnisch
  • S. Klaassen
  • T. Eschenhagen
  • M. Patten-Hamel
  • L. Carrier
  • G. Mearini


  • Stem Cell Research


  • Stem Cell Res 55: 102489


  • MYBPC3 is the most frequently affected gene in hypertrophic cardiomyopathy (HCM), which is an autosomal-dominant cardiac disease caused by mutations in sarcomeric proteins. Bi-allelic truncating MYBPC3 mutations are associated with severe forms of neonatal cardiomyopathy. We reprogrammed skin fibroblasts from a HCM patient carrying a heterozygous MYBPC3 truncating mutation into human induced pluripotent stem cells (iPSC) and used CRISPR/Cas9 to generate bi-allelic MYBPC3 truncating mutation and isogenic control hiPSC lines. All lines expressed pluripotency markers, had normal karyotype and differentiated into endoderm, ectoderm and cardiomyocytes in vitro. This set of three lines provides a useful tool to study HCM pathomechanisms.