Work

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

Year: 2025

Type: article

Abstract: Hypertrophic cardiomyopathy (HCM) is often caused by pathogenic or likely pathogenic variants, of which 30-50 % involve a variant in the gene encoding cardiac myosin-binding protein-C (MYBPC3). We generated human induced pluripotent stem cell lines from five individuals from two families carrying a pathogenic Dutch MYBPC3 founder variant: c.2373insG (n = 2) and c.2827C > T (n = 3), with highly variable disease expression. Peripheral blood mononuclear cells were reprogrammed using episomal plasmids. All cell lines express pluripotent markers, exhibit a normal karyotype, and could differentiate into derivatives of each germ layers in vitro. These cell lines can serve as disease model to investigate HCM pathogenesis.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103697

Authors: Floor W. van den Dolder, Vincent A.J. Warnaar, Yeszamin L. Onderwater, Annette F. Baas, Diederik W.D. Kuster, Jolanda van der Velden

Institutions: Amsterdam Cardiovascular Sciences, Amsterdam UMC Location Vrije Universiteit Amsterdam, Utrecht University, University Medical Center Utrecht

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,360