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Utilizing non-integrative episomal plasmids generates hiPSC lines with a CPVT mutation, implying potential for disease modeling.
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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Carreras et al. (2026) studied this question.
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