Stem Cell Research (May 2021)

Generation of a heterozygous FLNC mutation-carrying human iPSC line, USFi002-A, for modeling dilated cardiomyopathy

  • Mariana A. Argenziano,
  • Mariana Burgos Angulo,
  • Maliheh Najari Beidokhti,
  • Jiajia Yang,
  • Alexander C. Bertalovitz,
  • Thomas V. McDonald

Journal volume & issue
Vol. 53
p. 102394

Abstract

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Dilated Cardiomyopathy (DCM) is one of the main causes of sudden cardiac death and heart failure and is the leading indication for cardiac transplantation worldwide. Mutations in different genes including TTN, MYH7, and LMNA, have been linked to the development of DCM. Here, we generated a human induced pluripotent stem cell (IPSC) line from a DCM patient with a familial history that carries a frameshift mutation in Filamin C (FLNC). The IPSCs show typical morphology of pluripotent cells, expression of pluripotency markers, normal karyotype, and in vitro capacity to differentiate into all three germ layers.