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


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. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Martínez-Moreno R, Carreras D, Aran B, Kuebler B, Sarquella-Brugada G, Brugada R, Pérez GJ, Scornik FS, Selga E
Journal Stem cell research
Publication Date 2022 Aug;63:102847
PubMed 35772296
DOI 10.1016/j.scr.2022.102847

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