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
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...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-08-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000479 |
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| Summary: | 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. |
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| ISSN: | 1873-5061 |