Stem Cell Res. 2026 Sep;95:104071. doi: 10.1016/j.scr.2026.104071. Epub 2026 Aug 2.
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 Na1.5_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.
PMID:42574958 | DOI:10.1016/j.scr.2026.104071