Generation of an induced pluripotent stem cell line from a Chinese Han child with catecholaminergic polymorphic ventricular tachycardia

Stem Cell Res. 2022 Jul:62:102811. doi: 10.1016/j.scr.2022.102811. Epub 2022 May 11.

Abstract

TECRL, first reported in a Sudanese family with catecholaminergic polymorphic ventricular tachycardia (CPVT) in 2016. TECRL, is an endoplasmic reticulum (ER) protein preferentially expressed in the heart, playing a role in cardiomyocyte calcium homeostasis. Using Sendaivirus-mediated reprogramming, we generated an induced pluripotent stem cell (iPSC) line from the CPVT patient's peripheral blood mononuclear cell. The iPSC exhibited stable amplification, expressed pluripotent markers, and differentiated spontaneously into three layers in vitro. Additionally, the iPSC line maintained a normal karyotype, retained the pathogenic TECRL mutation, and the cell resource facilitated a platform to explore the CPVT mechanisms related to TECRL mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • China
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Leukocytes, Mononuclear / pathology
  • Mutation
  • Tachycardia, Ventricular* / genetics
  • Tachycardia, Ventricular* / pathology

Supplementary concepts

  • Polymorphic catecholergic ventricular tachycardia