Author

F. Scornik

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Open access Aug 2026

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.

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.

E. Selga, R. Martínez-Moreno, Albert Rigat Pujolàs et al. · Stem Cell Research · 0 citations

Open access Jul 2026

Molecular autopsy identifies the NaV1.5 p.Leu96Pro variant causing sodium current loss-of-function in unexplained sudden cardiac death.

Findings show that NaV1.5_p.Leu96Pro causes severe loss of sodium channel function and support the value of combining molecular autopsy, family evaluation, and functional studies for variant interpretation in SUD.

Albert Rigat Pujolàs, R. Martínez-Moreno, David Carreras et al. · Forensic Science Internation... · 0 citations