Reprogramming of a human induced pluripotent stem cell line (ZZUSAHi004-A) from a long QT syndrome patient with a heterozygous AKAP9 (c. 4021C > A) mutant

Stem Cell Res. 2022 Dec:65:102966. doi: 10.1016/j.scr.2022.102966. Epub 2022 Nov 12.

Abstract

Long QT syndrome is one of the most common hereditary arrhythmias in clinic. Mutations in AKAP9 gene can lead to long QT syndrome type 11 (LQT11). In this study, a human induced pluripotent stem cell line ZZUSAHi004-A from a 3-year-old male patient with long QT syndrome carrying a heterozygous mutation in AKAP9 gene using non-integrative Sendai viral reprogramming technology. ZZUSAHi004-A showed normal male karyotype (46, XY), expressed pluripotency markers and could differentiate into all three germ layers in vitro. ZZUSAHi004-A can serve as a cell disease model in the understanding of LQT11 pathogenesis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • A Kinase Anchor Proteins / genetics
  • Child, Preschool
  • Cytoskeletal Proteins
  • Humans
  • Induced Pluripotent Stem Cells*
  • Long QT Syndrome* / genetics
  • Male

Substances

  • AKAP9 protein, human
  • Cytoskeletal Proteins
  • A Kinase Anchor Proteins