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Article

Cardiomyopathy phenotypes caused by a heterozygous MYBPC3 mutation revealed in different hiPSC cardiac models.

Experimental cell research - 15 Jul 2026

Yiangou Loukia, Groen Eline, Erbì Martina, Stein Jeroen, Blanch-Asensio Albert, Visser Tessa, Mol Mervyn P H, Mummery Christine L, Davis Richard P

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is a complex cardiac disorder caused by mutations in sarcomeric protein genes, showing variable penetrance and disease severity among patients. Key pathological features include left ventricular hypertrophy, myofibrillar disarray and contractile defects. Here, we used human induced pluripotent stem cells (hiPSCs) carrying the MYBPC3-c.2373insG mutation to investigate disease...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42144094
DOI: 10.1016/j.yexcr.2026.115065

Genes

MYBPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Cardiomyopathy phenotypes caused by a heterozygous MYBPC3 mutation revealed in different hiPSC cardiac models.PMID 42144094Read ↗

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Generation of two heterozygous MYBPC3 mutation-carrying human iPSC lines, SCVIi001-A and SCVIi002-A, for modeling hypertrophic cardiomyopathy.Semantic proximity Read ↗

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