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Article

Mutation in RyR2-FKBP Binding site alters Ca2+ signaling modestly but increases "arrhythmogenesis" in human stem cells derived cardiomyocytes.

Cell calcium - 1 Jan 2022

Fernández-Morales José-Carlos, Xia Yanli, Renzo Taylor J, Zhang Xiao-Hua, Morad Martin

Abstract excerpt

AIMS: To gain insights into FKBP regulation of cardiac ryanodine receptor (RyR2) and Ca2+ signaling, we introduced the point mutation (N771D-RyR2) corresponding to skeletal muscle mutation (N760D-RyR1) associated with central core disease (CCD) via CRISPR/Cas9 gene-editing in the RyR2 FKBP binding site expressed in human induced pluripotent stem cell-derived cardiomyocytes (hiPSCCMs). Patients inflicted with CCD...

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Identifiers

PMID: 34813985
DOI: 10.1016/j.ceca.2021.102500
PMCID: PMC8752506

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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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