Stem Cell Research (Sep 2024)

Establishment of human embryonic stem cell lines carrying LQT1 mutations by CRISPR base editing

  • Xiaoman Wang,
  • Jiaqi Gao,
  • Chang Liu,
  • Jiaan Sun

Journal volume & issue
Vol. 79
p. 103496

Abstract

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The KCNQ1 gene encodes a voltage-gated potassium channel required for cardiac action potentials. Mutations in this gene have been associated with hereditary long QT syndrome 1, Jervell and Lange-Nielsen syndromes, and familial atrial fibrillation. The NM_000218.3(KCNQ1): c.604 + 2T > C mutation has been categorized as the causative variant leading to LQT1. In this study, we generated a KCNQ1 (c.644 + 2T > C) mutation human embryonic stem cell line WAe009-A-1L based on CRISPR base editing system. WAe009-A-1L cell has the potential to differentiate cardiomyocytes and would be used as an in vitro disease model for mechanism exploration and drug screening.