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Title: Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration
Authors: 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.
Issue Date: 2017
Project: PTDC/BIM-MED/3363/2014 
iNOVA4Health - UID/Multi/04462/2013 
Serial title, monograph or event: Stem Cell Research
Volume: 25
Abstract: 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.
ISSN: 18735061
DOI: 10.1016/j.scr.2017.10.019
Rights: openAccess
Appears in Collections:I&D CNC - Artigos em Revistas Internacionais
FMUC Medicina - Artigos em Revistas Internacionais

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