Martínez Moreno, RebeccaCarreras, DavidAran, BegoñaKuebler, BerndSarquella Brugada, GeorgiaBrugada, RamonPérez, Guillermo J.Scornik, Fabiana S.Selga, Elisabet2022-09-052022-09-052022-08-011873-5061https://hdl.handle.net/2445/188702Patient-derived induced pluripotent stem cells (iPSC) are a valuable approach to model cardiovascular diseases. We nucleofected non-integrating episomal vectors in skin fibroblasts of three family members carrying a single nucleotide variant (SNV) in SCN5A, which encodes the cardiac-type sodium channel, and of a related healthy control. The SNV SCN5A_c.4573G > A had been previously identified in a Brugada Syndrome patient. The resulting iPS cell lines differentiate into cells of the 3 germ layers, display normal karyotypes and express pluripotency surface markers and genes. Thus, they are a reliable source to study the effect of the identified mutation in a physiologically relevant environment.5 p.application/pdfengcc by-nc-nd (c) Martínez Moreno, Rebecca et al., 2022http://creativecommons.org/licenses/by-nc-nd/3.0/es/Cèl·lules mareMalalties cardiovascularsMalalties hereditàriesStem cellsCardiovascular diseasesGenetic diseasesinfo:eu-repo/semantics/article2022-08-04info:eu-repo/semantics/openAccess35772296