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March 16, 2025Stem Cell ResearchOpen Access

Generation of induced pluripotent stem cell lines from five individuals from two families carrying a pathogenic Dutch MYBPC3 founder variant with variable degrees of hypertrophic cardiomyopathy

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Key result

Researchers successfully generate human iPSC lines from five individuals with MYBPC3 variants to model HCM.

  • n=5

Why the study?

HCM is often caused by variants in MYBPC3, leading the authors to generate human induced pluripotent stem cell lines to serve as disease models to investigate HCM pathogenesis.

Population

Five individuals from two families carrying a pathogenic Dutch MYBPC3 founder variant

Design

In vitro stem cell line generation study

Authors

FDFloor W. van den DolderVWVincent A J WarnaarYOYeszamin L Onderwater

Discussion

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Member takes

Overview

No immediate clinical impact; leaves open whether these models advance HCM therapies.

Structured PICO

P
Population
Human induced pluripotent stem cell lines generated from peripheral blood mononuclear cells of 5 individuals from two families carrying a pathogenic Dutch MYBPC3 founder variant (c.2373insG, n=2; c.2827C>T, n=3) with hypertrophic cardiomyopathy.
I
Intervention
Reprogramming of peripheral blood mononuclear cells using non-integrating episomal vectors delivered via nucleofection.
O
Outcome
Generation and characterization of pluripotent stem cell lines (expression of pluripotency markers, normal karyotype, and trilineage differentiation).

The successful generation of iPSC lines from patients with Dutch MYBPC3 founder variants provides a valuable in vitro model for investigating the pathogenesis of hypertrophic cardiomyopathy.

Cite This Study

Dolder et al. (2025) studied Hypertrophic cardiomyopathy (n=5). Generation of induced pluripotent stem cell lines was evaluated on Generation and characterization of iPSC lines. Human induced pluripotent stem cell lines were successfully generated from five individuals carrying pathogenic Dutch MYBPC3 founder variants to serve as a disease model for hypertrophic cardiomyopathy.

synapsesocial.com/papers/6a10d877ed67694fb09f81d1https://doi.org/10.1016/j.scr.2025.103697
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands2003 · 152 citations
  2. 2Characterization of heterozygous and homozygous mouse models with the most common hypertrophic cardiomyopathy mutation MYBPC3 in the Netherlands2023 · 11 citations
  3. 3Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage2017 · 82 citations
  4. 4Evidence From Human Myectomy Samples That <i>MYBPC3</i> Mutations Cause Hypertrophic Cardiomyopathy Through Haploinsufficiency2009 · 246 citations
  5. 5Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy2009 · 333 citations