Stem Cell Research (Dec 2017)

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

  • Fernando Cristo,
  • José M. Inácio,
  • Graça Rosas,
  • Isabel Marques Carreira,
  • Joana Barbosa Melo,
  • Luís Pereira de Almeida,
  • Patrícia Mendes,
  • Duarte Saraiva Martins,
  • José Maio,
  • Rui Anjos,
  • José A. Belo

DOI
https://doi.org/10.1016/j.scr.2017.10.019
Journal volume & issue
Vol. 25, no. C
pp. 152 – 156

Abstract

Read online

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.