What question did this study set out to answer?

This research aims to generate hiPSC lines from individuals with a specific mutation associated with CPVT.

March 10, 2026Open Access

Generation of three heterozygous and two homozygous hiPSC lines from a CPVT associated mutation RYR2ₚ. G357S from a large family of the Canary Islands

DCDavid CarrerasInstitut d'Investigació Biomèdica de Girona RMRebecca Martínez-MorenoInstitut d'Investigació Biomèdica de Girona ESElisabet SelgaUniversitat de Vic - Universitat Central de Catalunya

Key Points

This research aims to generate hiPSC lines from individuals with a specific mutation associated with CPVT.
Reprogrammed skin fibroblasts using non-integrative episomal plasmids.
Targeted individuals included three heterozygous and two homozygous mutation carriers.
Verified resulting hiPSC lines for karyotype, germ layer differentiation, and pluripotency.
Successfully generated three heterozygous and two homozygous hiPSC lines.
All cell lines exhibited a normal karyotype.
hiPSCs differentiated into cells from the three germ layers and expressed pluripotency markers.

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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