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Article

Patient-Derived iPSC-Cardiomyocytes Reveal Subclinical Cardiomyocyte Dysfunction Associated With the CAV3 N-Terminal Variant p.Ala46Thr.

Human mutation - 1 Jan 2026

Wang Junyi, Zhu Xintong, Li Yaqiong, Dai Limeng, Tan Xiaoyin, Li Jia, Guo Hong

Abstract excerpt

The CAV3 p.Ala46Thr mutation is previously associated with skeletal muscle damage only, with its myocardial impact and long-term cardiac risks unclear. This study is aimed at investigating whether it induces subclinical myocardial damage at the cellular level and explore its mechanism using a patient-specific iPSC-CMs model. To achieve this, peripheral blood from a proband carrying the CAV3 c.136G>A (p.Ala46Thr)...

Read the complete abstract on PubMed

Topics

Humans
Myocytes, Cardiac
Induced Pluripotent Stem Cells
Caveolin 3
Mutation
Cell Differentiation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Female

Male

Calcium

Source

Open in PubMed Open full text

Identifiers

PMID: 42774892
DOI: 10.1155/humu/4061668
PMCID: PMC13596001

Genes

CAV3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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