Long QT Syndrome KCNH2 Variant Induces hERG1a/1b Subunit Imbalance in Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes

Circ Arrhythm Electrophysiol. 2021 Apr;14(4):e009343. doi: 10.1161/CIRCEP.120.009343. Epub 2021 Mar 17.

Abstract

[Figure: see text].

Keywords: electrophysiology; ion channel; long QT syndrome; phenotype; stem cell.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Action Potentials*
  • Adult
  • Ether-A-Go-Go Potassium Channels / genetics
  • Ether-A-Go-Go Potassium Channels / metabolism*
  • Female
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Glycosylation
  • HEK293 Cells
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Ion Channel Gating
  • Kinetics
  • Long QT Syndrome / genetics
  • Long QT Syndrome / metabolism*
  • Myocytes, Cardiac / metabolism*
  • Phenotype
  • Protein Transport

Substances

  • Ether-A-Go-Go Potassium Channels
  • KCNH1 protein, human

Supplementary concepts

  • Long Qt Syndrome 2