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

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; A. Belo, José

doi:https://doi.org/10.1016/j.scr.2017.10.019

Please use this identifier to cite or link to this item: http://hdl.handle.net/10362/26921

Title:	Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration
Author:	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 A. Belo, José
Keywords:	Developmental Biology Cell Biology SDG 3 - Good Health and Well-being
Issue Date:	Dec-2017
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.
Description:	We would like to thank the patient and their guardians for their generous donation of the urine sample used in this study. We also would like to thank Ana Jardimfor technical support in karyotype analysis. This work was supported by Fundacao para a Ciencia e a Tecnologia (PTDC/BIM-MED/3363/2014). iNOVA4Health - UID/Multi/04462/2013, a program financially supported by Fundacao para a Ciencia e Tecnologia/Ministerio da Educacao e Ciencia, through national funds and co-funded by FEDER under the PT2020 Partnership Agreement is acknowledged. Publisher
Peer review:	yes
URI:	http://www.scopus.com/inward/record.url?scp=85033403571&partnerID=8YFLogxK
DOI:	https://doi.org/10.1016/j.scr.2017.10.019
ISSN:	1873-5061
Appears in Collections:	NMS: CEDOC - Artigos em revista internacional com arbitragem científica

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