Generation of a human embryonic stem cell line WAe009-A-79 carrying a long QT syndrome mutation in KCNQ1

Stem Cell Res. 2023 Aug:70:103119. doi: 10.1016/j.scr.2023.103119. Epub 2023 May 10.

Abstract

The voltage-gated potassium channel KvLQT1 encoded by KCNQ1 plays an important role in the repolarization of myocardial action potentials. KCNQ1 mutations can cause Long QT syndrome type 1 (LQT1), which is considered to be the most common causative gene of LQT. In this study, we established a human embryonic stem cell line KCNQ1L114P/+ (WAe009-A-79) carrying a LQT1 related mutation in KCNQ1. The WAe009-A-79 line maintains the morphology, pluripotency, and normal karyotype of stem cells, and can differentiate into all three germ layers in vivo.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Human Embryonic Stem Cells* / metabolism
  • Humans
  • KCNQ Potassium Channels / genetics
  • KCNQ1 Potassium Channel / genetics
  • KCNQ1 Potassium Channel / metabolism
  • Long QT Syndrome* / genetics
  • Mutation / genetics
  • Potassium Channels, Voltage-Gated* / genetics
  • Romano-Ward Syndrome* / genetics

Substances

  • KCNQ1 Potassium Channel
  • Potassium Channels, Voltage-Gated
  • KCNQ Potassium Channels
  • KCNQ1 protein, human