Generation of human induced pluripotent stem cell lines from relatives of an unexplained sudden cardiac death victim carrying a Brugada Syndrome-associated, SCN5A c.287 T>C, variant

Authors: Elisabet Selga, Rebecca Martínez-Moreno, Albert Rigat Pujolàs, Begoña Aran, Bernd Kuebler, Guillermo J. Pérez, Fabiana S. Scornik *, Ramon Brugada

Stem Cell Research. 2026

DOI:10.1016/j.scr.2026.104071

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Abstract

Patient-derived induced pluripotent stem cells (hiPSC) are a valuable approach to model cardiovascular diseases. We nucleofected non-integrating episomal vectors in skin fibroblasts of four family members. Two of them carried the single nucleotide variant (SNV) SCN5A_c.287 T >C, leading to NaV1.5_p.L96P, and two were non-carrier family members. The resulting hiPSC cell lines differentiate into cells of the 3 germ layers, display normal karyotypes and express markers of the undifferentiated hPSC state. Thus, they are a reliable source to study the effect of the identified mutation in a physiologically relevant environment.