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Generation of four induced pluripotent stem cell lines from a family harboring a single nucleotide variant in SCN5A.

Stem cell research - 1 Aug 2022

Martínez-Moreno Rebecca, Carreras David, Aran Begoña, Kuebler Bernd, Sarquella-Brugada Georgia, Brugada Ramon, Pérez Guillermo J, Scornik Fabiana S, Selga Elisabet

Abstract excerpt

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...

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PMID: 35772296
DOI: 10.1016/j.scr.2022.102847

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