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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 - 1 Jun 2026

Carreras David, Martínez-Moreno Rebecca, Selga Elisabet, Roura Elisabet, Veiga Anna, Aran Begoña, Kuebler Bernd, Wangüemert Fernando, Brugada Ramon, Scornik Fabiana S, Pérez Guillermo J

Abstract excerpt

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),...

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Identifiers

PMID: 41819740
DOI: 10.1016/j.scr.2026.103959

Genes

RYR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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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.PMID 41819740Read ↗

Generation of two human induced pluripotent stem cell lines, LUMCi020-A and LUMCi021-A, from two patients with Catecholaminergic Polymorphic Ventricular Tachycardia carrying heterozygous mutations in the RYR2 gene.Semantic proximity Read ↗

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Generation of human induced pluripotent stem cell lines from three patients affected by Catecholaminergic Polymorphic ventricular tachycardia (CPVT) carrying heterozygous mutations in RYR2 gene.Semantic proximity Read ↗

Generation of a human induced pluripotent stem cell line (KSCBi016-A) from a CPVT patient with an RYR2 mutation.Semantic proximity Read ↗

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