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


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. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Cristo F, Inácio JM, Rosas G, Carreira IM, Melo JB, de Almeida LP, Mendes P, Martins DS, Maio J, Anjos R, Belo JA
Journal Stem cell research
Publication Date 2017 Dec;25:152-156
PubMed 29136563
DOI 10.1016/j.scr.2017.10.019

Research Projects

Cell Lines