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http://hdl.handle.net/10316/102116| 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. | URI: | http://hdl.handle.net/10316/102116 | 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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| 1-s2.0-S1873506117302234-main.pdf | 709.18 kB | Adobe PDF | View/Open |
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