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