Author(s):
Cristo, Fernando ; 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.
Date: 2017
Persistent ID: https://hdl.handle.net/10316/102116
Origin: Estudo Geral - Universidade de Coimbra
Subject(s): 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
Description
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.
