Stem Cell Research (Apr 2024)

Generation of an induced pluripotent stem cell line from patient with atrial fibrillation with KCNQ1 p.Ser209Pro mutation

  • YunGuang Cen,
  • TianCheng Zhou,
  • SongSheng Chen,
  • ZhanYu Deng,
  • JianShuo Wang,
  • Ning Ma,
  • ShaoHeng Zhang

Journal volume & issue
Vol. 76
p. 103336

Abstract

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Gain-of-function mutations in the KCNQ1 gene can cause atrial fibrillation. In this study, we generated an induced stem cell line (GRCHJUi001) from one member of an atrial fibrillation family line, whom had heterozygous mutation in the KCNQ1 gene c.625 T > C (p.Ser209Pro), and the cell line showed maintenance of stem cells characterized by morphology, normal karyotype, and pluripotency.