Generation of an induced pluripotent stem cell line from a long QT syndrome type 2 patient carrying the pathogenic KCNH2 c.1682C>T (p.Ala561Val) variant

Stem Cell Res. 2026 Jun:93:103951. doi: 10.1016/j.scr.2026.103951. Epub 2026 Mar 3.

Abstract

Long QT syndrome type 2 (LQT2) is a life-threatening cardiac channelopathy caused by variants in the KCNH2 gene, which encodes the hERG channel. Reduced rapid delayed rectifier potassium current (IKr) delays ventricular repolarization and prolongs the QT interval, increasing susceptibility to Torsade de Pointes and sudden cardiac death. A LQT2 induced pluripotent stem cell (iPSC) line carrying the pathogenicKCNH2c.1682C>T (p.Ala561Val) variant was generated from a patient who experienced syncope; the resulting iPSC line exhibits a normal karyotype, typical stem cell morphology, pluripotency, and trilineage differentiation potential, providing a valuable resource for disease- and patient-specific translational and precision medicine research.

Publication types

  • Case Reports

MeSH terms

  • Cell Differentiation
  • Cell Line
  • ERG1 Potassium Channel* / genetics
  • ERG1 Potassium Channel* / metabolism
  • Female
  • Humans
  • Induced Pluripotent Stem Cells* / cytology
  • Induced Pluripotent Stem Cells* / metabolism
  • Induced Pluripotent Stem Cells* / pathology
  • Long QT Syndrome* / genetics
  • Long QT Syndrome* / metabolism
  • Long QT Syndrome* / pathology
  • Male

Substances

  • ERG1 Potassium Channel
  • KCNH2 protein, human

Supplementary concepts

  • Long Qt Syndrome 2