Generation of induced pluripotent stem cells (iPSCs) from a Chinese infant (XACHi015-A) with type 2 Long QT syndrome carrying the heterozygous mutation c.1814C>T(p.P605L) in KCNH2

Stem Cell Res. 2021 Oct:56:102509. doi: 10.1016/j.scr.2021.102509. Epub 2021 Aug 19.

Abstract

Induced pluripotent stem cell lines (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of a ten years old boy with the type 2 Long QT syndrome carrying the heterozygous mutation c.1814C>T(p.P605L) in KCNH2. PBMCs were reprogrammed using non-integrative Sendai viral vectors containing reprogramming factors OCT4, SOX2, KLF4 and C-MYC. The iPSCs were shown to express pluripotent markers, have trilineage differentiation potential, carry c.1814C>T(p.P605L) mutation in KCNH2 and have a normal karyotype. Thuse the iPSC line we established will be useful for studying the pathogenesis of the type 2 long QT syndrome and drug testing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation
  • Cellular Reprogramming
  • Child
  • China
  • ERG1 Potassium Channel / genetics
  • Humans
  • Induced Pluripotent Stem Cells*
  • Infant
  • Kruppel-Like Factor 4
  • Leukocytes, Mononuclear
  • Long QT Syndrome* / genetics
  • Male
  • Mutation

Substances

  • ERG1 Potassium Channel
  • KCNH2 protein, human
  • KLF4 protein, human
  • Kruppel-Like Factor 4