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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| Format: | Article |
| Language: | English |
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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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| author | Floor W. van den Dolder Vincent A.J. Warnaar Yeszamin L. Onderwater Annette F. Baas Diederik W.D. Kuster Jolanda van der Velden |
| author_facet | Floor W. van den Dolder Vincent A.J. Warnaar Yeszamin L. Onderwater Annette F. Baas Diederik W.D. Kuster Jolanda van der Velden |
| author_sort | Floor W. van den Dolder |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-784294334e81418889e911bd4c299722 |
| institution | OA Journals |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-784294334e81418889e911bd4c2997222025-08-20T02:35:36ZengElsevierStem Cell Research1873-50612025-08-018610369710.1016/j.scr.2025.103697Generation of induced pluripotent stem cell lines from five individuals from two families carrying a pathogenic Dutch MYBPC3 founder variant with variable degrees of hypertrophic cardiomyopathyFloor W. van den Dolder0Vincent A.J. Warnaar1Yeszamin L. Onderwater2Annette F. Baas3Diederik W.D. Kuster4Jolanda van der Velden5Physiology, Amsterdam UMC, Location Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, the Netherlands; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, the NetherlandsPhysiology, Amsterdam UMC, Location Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, the Netherlands; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, the NetherlandsPhysiology, Amsterdam UMC, Location Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, the Netherlands; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, the NetherlandsDepartment of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the NetherlandsPhysiology, Amsterdam UMC, Location Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, the Netherlands; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, the NetherlandsPhysiology, Amsterdam UMC, Location Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, the Netherlands; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, the Netherlands; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S1873506125000479 |
| spellingShingle | Floor W. van den Dolder Vincent A.J. Warnaar Yeszamin L. Onderwater Annette F. Baas Diederik W.D. Kuster Jolanda van der Velden 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 Stem Cell Research |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125000479 |
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