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

• DOI: 10.1016/j.scr.2017.10.019
• Publication Date: 2017-10-31T14:07:01Z
• Authors: Fernando Cristo; José M. Inácio; Graça Rosas; Isabel Marques Ca...; Joana Barbosa Melo; Luís Pereira de A...; Patrícia Mendes; Duarte Saraiva Ma...; José Maio; Rui Anjos; José A. Belo
• Keywords: Reprogramming; Germ layer; Embryoid body; Sendai virus

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 OSKM transcription factor using Sendai-virus reprogramming system. established had specific heterozygous alteration, stable karyotype, expressed pluripotency markers embryoid bodies that can differentiate towards three germ layers vitro. This offers useful resource to study molecular mechanisms cardiomyocyte proliferation, as well for drug testing.