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2026-03-07

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Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/230539

Generation of three heterozygous and two homozygous hiPSC lines from a CPVT associated mutation RYR2_p.G357S from a large family of the Canary Islands

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https://doi.org/10.1016/j.scr.2026.103959

Abstract

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disease characterized by adrenergically induced ventricular arrhythmias that cause sudden cardiac death. Using non-integrative episomal plasmids we reprogrammed skin fibroblasts of three heterozygous and two homozygous carriers of a mutation in the gene that encodes the ryanodine receptor type 2 (RYR2), RYR2_c.G1069A/p.G357S, previously associated to CPVT in a large family of the Gran Canaria Island. The resulting hiPSC cell lines have normal karyotype, differentiate into cells of the 3 germ layers, and express pluripotency markers and genes.

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Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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CARRERAS, David, et al. Generation of three heterozygous and two homozygous hiPSC lines from a CPVT associated mutation RYR2_p.G357S from a large family of the Canary Islands. Stem Cell Research. 2026. Vol. 93, num. 103959. [consulted: 16 of August of 2026]. Available at: https://hdl.handle.net/2445/230539

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