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

• Main Author: Cristo, Fernando
• Publication Date: 2017
• Other Authors: Inácio, José M, Rosas, Graça, Carreira, Isabel Marques, Melo, Joana Barbosa, Almeida, Luís Pereira de, Mendes, Patrícia, Martins, Duarte Saraiva, Maio, José, Anjos, Rui, Belo, José A.
• Format: Article
• Language: eng
• Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
• Download full: https://hdl.handle.net/10316/102116; https://doi.org/10.1016/j.scr.2017.10.019
• topic: Cell Differentiation; Cell Line; Cellular Reprogramming; Child; Embryoid Bodies; Heart Defects, Congenital; Humans; Induced Pluripotent Stem Cells; Intercellular Signaling Peptides and Proteins; Karyotype; Male; Mutation, Missense

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.