Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations

MYH7 heterozygous mutations are common genetic causes of hypertrophic cardiomyopathy (HCM). HCM is characterized by hypertrophy of the left ventricle and diastolic dysfunction. We generated three human induced pluripotent stem cell (iPSC) lines from three HCM patients each carrying a single heterozy...

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Autores principales: Cao, Xu, Jahng, James W.S., Lee, Chelsea, Zha, Yanjun, Wheeler, Matthew T., Sallam, Karim, Wu, Joseph C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10339835/
https://www.ncbi.nlm.nih.gov/pubmed/34352619
http://dx.doi.org/10.1016/j.scr.2021.102455
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author Cao, Xu
Jahng, James W.S.
Lee, Chelsea
Zha, Yanjun
Wheeler, Matthew T.
Sallam, Karim
Wu, Joseph C.
author_facet Cao, Xu
Jahng, James W.S.
Lee, Chelsea
Zha, Yanjun
Wheeler, Matthew T.
Sallam, Karim
Wu, Joseph C.
author_sort Cao, Xu
collection PubMed
description MYH7 heterozygous mutations are common genetic causes of hypertrophic cardiomyopathy (HCM). HCM is characterized by hypertrophy of the left ventricle and diastolic dysfunction. We generated three human induced pluripotent stem cell (iPSC) lines from three HCM patients each carrying a single heterozygous mutation in MYH7, c.2167C > T, c.4066G > A, and c.5135G > A, respectively. All lines expressed high levels of pluripotent markers, had normal karyotype, and possessed capability of differentiation into derivatives of the three germ layers, which can serve as valuable tools for modeling HCM in vitro and investigating the pathological mechanisms related to MYH7 mutations.
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spelling pubmed-103398352023-07-13 Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations Cao, Xu Jahng, James W.S. Lee, Chelsea Zha, Yanjun Wheeler, Matthew T. Sallam, Karim Wu, Joseph C. Stem Cell Res Article MYH7 heterozygous mutations are common genetic causes of hypertrophic cardiomyopathy (HCM). HCM is characterized by hypertrophy of the left ventricle and diastolic dysfunction. We generated three human induced pluripotent stem cell (iPSC) lines from three HCM patients each carrying a single heterozygous mutation in MYH7, c.2167C > T, c.4066G > A, and c.5135G > A, respectively. All lines expressed high levels of pluripotent markers, had normal karyotype, and possessed capability of differentiation into derivatives of the three germ layers, which can serve as valuable tools for modeling HCM in vitro and investigating the pathological mechanisms related to MYH7 mutations. 2021-08 2021-07-12 /pmc/articles/PMC10339835/ /pubmed/34352619 http://dx.doi.org/10.1016/j.scr.2021.102455 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) )
spellingShingle Article
Cao, Xu
Jahng, James W.S.
Lee, Chelsea
Zha, Yanjun
Wheeler, Matthew T.
Sallam, Karim
Wu, Joseph C.
Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations
title Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations
title_full Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations
title_fullStr Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations
title_full_unstemmed Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations
title_short Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations
title_sort generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying myh7 mutations
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10339835/
https://www.ncbi.nlm.nih.gov/pubmed/34352619
http://dx.doi.org/10.1016/j.scr.2021.102455
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