Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration

Stem Cell Res. 2017 Dec:25:152-156. doi: 10.1016/j.scr.2017.10.019. Epub 2017 Oct 31.

Abstract

A human iPSC line was generated from exfoliated renal epithelial (ERE) cells of a patient affected with Congenital Heart Disease (CHD) and Laterality Defects carrying tshe variant p.R152H in the DAND5 gene. The transgene-free iPSCs were generated with the human OSKM transcription factor using the Sendai-virus reprogramming system. The established iPSC line had the specific heterozygous alteration, a stable karyotype, expressed pluripotency markers and generated embryoid bodies that can differentiate towards the three germ layers in vitro. This iPSC line offers a useful resource to study the molecular mechanisms of cardiomyocyte proliferation, as well as for drug testing.

Publication types

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

MeSH terms

  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming
  • Child
  • Embryoid Bodies / cytology
  • Embryoid Bodies / metabolism
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / metabolism
  • Heart Defects, Congenital / physiopathology
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Intercellular Signaling Peptides and Proteins / metabolism
  • Karyotype
  • Male
  • Mutation, Missense

Substances

  • DAND5 protein, human
  • Intercellular Signaling Peptides and Proteins