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.
Aug 2026· Stem Cell Research· Vol 95, pp.
104071
· 0 citations· 3 references
Medicine
TL;DR
Patient-derived induced pluripotent stem cells (hiPSC) are a valuable approach to model cardiovascular diseases and nucleofected non-integrating episomal vectors in skin fibroblasts of four family members are a reliable source to study the effect of the identified mutation in a physiologically relevant environment.
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.
Tropomyosin 1 (TPM1) encodes tropomyosin alpha-1 chain, a key cardiac sarcomere component, while TPM1 mutations cause hypertrophic cardiomyopathy (HCM), a major cause of sudden cardiac death in the young. We generated the human iPSC line ZZUNEUi040-A from peripheral blood mononuclear cells of a 10-year-old male with no...
We generated a human induced pluripotent stem cell (hiPSC) clonal line, JHUi010-A, from a 48-year-old female diagnosed with arrhythmogenic cardiomyopathy (ACM) carrying a heterozygous DSG2 c.2358delA variant using Sendai virus vectors expressing the Yamanaka factors. The line exhibits a normal karyotype, expresses stem...
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