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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/188702
Generation of four induced pluripotent stem cell lines from a family harboring a single nucleotide variant in SCN5A
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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.
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MARTÍNEZ MORENO, Rebecca, CARRERAS, David, ARAN, Begoña, KUEBLER, Bernd, SARQUELLA BRUGADA, Georgia, BRUGADA, Ramon, PÉREZ, Guillermo j., SCORNIK, Fabiana s., SELGA, Elisabet. Generation of four induced pluripotent stem cell lines from a family harboring a single nucleotide variant in SCN5A. _Stem Cell Research_. 2022. Vol. 63, núm. 102847. [consulta: 24 de gener de 2026]. ISSN: 1873-5061. [Disponible a: https://hdl.handle.net/2445/188702]