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Article

Variable cMyBP-C expression from cell to cell in a MYBPC3c.927-2 A>G hiPSC-CM model recapitulates HCM patient phenotype.

Stem cell research & therapy - 19 May 2026

Ivaskevica Karina, Kowalski Kathrin, Piep Birgit, Teske Jana, Meissner Joachim D, Kosanke Maike, Radocaj Ante, Montag Judith, Zweigerdt Robert, Kraft Theresia, Konze Sarah A

Abstract excerpt

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is frequently associated with mutations in cardiac myosin binding protein C (cMyBP-C; MYBPC3) and cMyBP-C haploinsufficiency. Previously we discovered burst-like transcription of MYBPC3 and unequal amounts of wild type cMyBP-C from cardiomyocyte to cardiomyocyte in HCM-patient's myocardium. The present study introduces human induced pluripotent stem cell-derived...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42152135
DOI: 10.1186/s13287-026-05063-9
PMCID: PMC13185243

Genes

MYBPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Variable cMyBP-C expression from cell to cell in a MYBPC3c.927-2 A>G hiPSC-CM model recapitulates HCM patient phenotype.PMID 42152135Read ↗

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Variable cardiac myosin binding protein-C expression in the myofilaments due to MYBPC3 mutations in hypertrophic cardiomyopathy.Semantic proximity Read ↗

cMyBP-C ablation in human engineered cardiac tissue causes progressive Ca2+-handling abnormalities.Semantic proximity Read ↗

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Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation.Semantic proximity Read ↗

<i>MYBPC3</i>(c.194C>T) mutation-mediated RyR2 dysfunction contributes to pathogenic phenotypes of dilated cardiomyopathy revealed by hiPSC modelingSemantic proximity Read ↗

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