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Article

Attempts to Create Transgenic Mice Carrying the Q3924E Mutation in RyR2 Ca2+ Binding Site.

Cells - 12 Dec 2024

Zhang Xiao-Hua, Tang Fu-Lei, Trouten Allison M, Morad Martin

Abstract excerpt

Over 200 point mutations in the ryanodine receptor (RyR2) of the cardiac sarcoplasmic reticulum (SR) are known to be associated with cardiac arrhythmia. We have already reported on the calcium signaling phenotype of a point mutation in RyR2 Ca2+ binding site Q3925E expressed in human stem-cell-derived cardiomyocytes (hiPSC-CMs) that was found to be lethal in a 9-year-old girl. CRISPR/Cas9-gene-edited mutant...

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Identifiers

PMID: 39768143
DOI: 10.3390/cells13242051
PMCID: PMC11674951

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