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

• Published in: Stem cell research Vol. 25; no. C; pp. 152 - 156
• Main Authors: Cristo, Fernando, Inácio, José M., Rosas, Graça, Carreira, Isabel Marques, Melo, Joana Barbosa, de Almeida, Luís Pereira, Mendes, Patrícia, Martins, Duarte Saraiva, Maio, José, Anjos, Rui, Belo, José A.
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.12.2017; Elsevier
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2017.10.019

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.