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Article

Functional abnormalities in iPSC-derived cardiomyocytes generated from CPVT1 and CPVT2 patients carrying ryanodine or calsequestrin mutations.

Journal of cellular and molecular medicine - 1 Aug 2015

Novak Atara, Barad Lili, Lorber Avraham, Gherghiceanu Mihaela, Reiter Irina, Eisen Binyamin, Eldor Liron, Itskovitz-Eldor Joseph, Eldar Michael, Arad Michael, Binah Ofer

Abstract excerpt

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmia characterized by syncope and sudden death occurring during exercise or acute emotion. CPVT is caused by abnormal intracellular Ca(2+) handling resulting from mutations in the RyR2 or CASQ2 genes. Because CASQ2 and RyR2 are involved in different aspects of the excitation-contraction coupling process, we hypothesized that these...

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Source

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Identifiers

PMID: 26153920
DOI: 10.1111/jcmm.12581
PMCID: PMC4549051

Genes

CASQ2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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