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Article

Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential.

Stem cell reports - 13 Sept 2022

Stutzman Marissa J, Kim C S John, Tester David J, Hamrick Samantha K, Dotzler Steven M, Giudicessi John R, Miotto Marco C, Gc Jeevan B, Frank Joachim, Marks Andrew R, Ackerman Michael J

Abstract excerpt

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a cardiac channelopathy causing ventricular tachycardia following adrenergic stimulation. Pathogenic variants in RYR2-encoded ryanodine receptor 2 (RYR2) cause CPVT1 and cluster into domains I-IV, with the most N-terminal domain involving residues 77-466. Patient-specific induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) were generated...

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Identifiers

PMID: 35931078
DOI: 10.1016/j.stemcr.2022.07.002
PMCID: PMC9481874

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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