Generation and characterization of twelve human induced pluripotent stem cell (iPSC) lines from four familial long QT syndrome type 1 (LQT1) patients carrying KCNQ1 c.1201dupC mutation

Stem Cell Res. 2019 Dec:41:101650. doi: 10.1016/j.scr.2019.101650. Epub 2019 Nov 14.

Abstract

In this study, we describe the generation and characterization of induced pluripotent stem cell (iPSC) lines from familial long QT syndrome type 1 (LQT1) patients carrying the KCNQ1 c.1201dupC (p.Arg401fs) frame shift mutation by using non-integrational Sendai reprogramming method. The patient-specific iPSC lines harboring the c.1201dupC mutation on KCNQ1 gene expressed pluripotency markers and had the capacity to differentiate into three germ layers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Cell Culture Techniques / methods*
  • Cell Line / pathology*
  • Child
  • Female
  • Humans
  • Induced Pluripotent Stem Cells / pathology*
  • KCNQ1 Potassium Channel / genetics*
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Reproducibility of Results
  • Romano-Ward Syndrome / genetics*
  • Romano-Ward Syndrome / pathology*

Substances

  • KCNQ1 Potassium Channel
  • KCNQ1 protein, human