Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants

Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder characterized by a thick left ventricular wall and an increased risk of arrhythmias, heart failure, and sudden cardiac death. The MYBPC3 and PRAKG2 are known causal genes for HCM. Here we generated two human-induced pluripotent stem...

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Autores principales: Manhas, Amit, Jahng, James W.S., Vera, Carlos D., Shenoy, Sushma P., Knowles, Joshua W., Wu, Joseph C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9708393/
https://www.ncbi.nlm.nih.gov/pubmed/35413566
http://dx.doi.org/10.1016/j.scr.2022.102774
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author Manhas, Amit
Jahng, James W.S.
Vera, Carlos D.
Shenoy, Sushma P.
Knowles, Joshua W.
Wu, Joseph C.
author_facet Manhas, Amit
Jahng, James W.S.
Vera, Carlos D.
Shenoy, Sushma P.
Knowles, Joshua W.
Wu, Joseph C.
author_sort Manhas, Amit
collection PubMed
description Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder characterized by a thick left ventricular wall and an increased risk of arrhythmias, heart failure, and sudden cardiac death. The MYBPC3 and PRAKG2 are known causal genes for HCM. Here we generated two human-induced pluripotent stem cell lines from two HCM patients carrying two heterozygous mutations in MYBPC3 (c.459delC) and PRKAG2 (c.1703C > T). Both iPSC lines expressed pluripotent markers, had a normal karyotype, and were able to differentiate into three germ layers, making them potentially valuable tools for modeling HCM in vitro and investigating the pathological mechanisms related to these two variants.
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spelling pubmed-97083932022-11-30 Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants Manhas, Amit Jahng, James W.S. Vera, Carlos D. Shenoy, Sushma P. Knowles, Joshua W. Wu, Joseph C. Stem Cell Res Article Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder characterized by a thick left ventricular wall and an increased risk of arrhythmias, heart failure, and sudden cardiac death. The MYBPC3 and PRAKG2 are known causal genes for HCM. Here we generated two human-induced pluripotent stem cell lines from two HCM patients carrying two heterozygous mutations in MYBPC3 (c.459delC) and PRKAG2 (c.1703C > T). Both iPSC lines expressed pluripotent markers, had a normal karyotype, and were able to differentiate into three germ layers, making them potentially valuable tools for modeling HCM in vitro and investigating the pathological mechanisms related to these two variants. 2022-05 2022-03-31 /pmc/articles/PMC9708393/ /pubmed/35413566 http://dx.doi.org/10.1016/j.scr.2022.102774 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
Manhas, Amit
Jahng, James W.S.
Vera, Carlos D.
Shenoy, Sushma P.
Knowles, Joshua W.
Wu, Joseph C.
Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants
title Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants
title_full Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants
title_fullStr Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants
title_full_unstemmed Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants
title_short Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants
title_sort generation of two ipsc lines from hypertrophic cardiomyopathy patients carrying mybpc3 and prkag2 variants
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9708393/
https://www.ncbi.nlm.nih.gov/pubmed/35413566
http://dx.doi.org/10.1016/j.scr.2022.102774
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