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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, et al. 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. ISSN 1873-5061. [consulta: 11 de maig de 2026]. Disponible a: https://hdl.handle.net/2445/188702