2026-04-17T16:12:04Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1887022025-12-05T11:58:28Zcom_2072_1057col_2072_478916col_2072_478917

Generation of four induced pluripotent stem cell lines from a family harboring a single nucleotide variant in SCN5A Martínez Moreno, Rebecca Carreras, David Aran, Begoña Kuebler, Bernd Sarquella Brugada, Georgia Brugada, Ramon Pérez, Guillermo J. Scornik, Fabiana S. Selga, Elisabet Cèl·lules mare Malalties cardiovasculars Malalties hereditàries Stem cells Cardiovascular diseases Genetic diseases Patient-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. 2022-09-05T08:52:21Z 2022-09-05T08:52:21Z 2022-08-01 2022-08-04T13:23:38Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Reproducció del document publicat a: https://doi.org/10.1016/j.scr.2022.102847 Stem Cell Research, 2022, vol. 63, p. 102847 https://doi.org/10.1016/j.scr.2022.102847 cc by-nc-nd (c) Martínez Moreno, Rebecca et al., 2022 http://creativecommons.org/licenses/by-nc-nd/3.0/es/ info:eu-repo/semantics/openAccess Elsevier BV Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))