Generation of three iPSC lines from dilated cardiomyopathy patients carrying a pathogenic LMNA variant

LMNA-related dilated cardiomyopathy (DCM) is caused by pathogenic variants in LMNA and is characterized by left ventricular enlargement, reduced systolic function, and arrhythmia. Here, we generated three human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs...

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Autores principales: Lee, Chelsea, Cho, Sangkyun, Lai, Celine, Shenoy, Sushma, Vagelos, Randall, Wu, Joseph C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9436418/
https://www.ncbi.nlm.nih.gov/pubmed/34954454
http://dx.doi.org/10.1016/j.scr.2021.102638
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author Lee, Chelsea
Cho, Sangkyun
Lai, Celine
Shenoy, Sushma
Vagelos, Randall
Wu, Joseph C.
author_facet Lee, Chelsea
Cho, Sangkyun
Lai, Celine
Shenoy, Sushma
Vagelos, Randall
Wu, Joseph C.
author_sort Lee, Chelsea
collection PubMed
description LMNA-related dilated cardiomyopathy (DCM) is caused by pathogenic variants in LMNA and is characterized by left ventricular enlargement, reduced systolic function, and arrhythmia. Here, we generated three human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of three DCM patients carrying the same single heterozygous mutation, c.1129C > T, in LMNA. All lines expressed normal iPSC morphology, high levels of pluripotent markers, normal karyotypes, and could differentiate into the three germ layers. These iPSC lines can serve as invaluable tools to model pathological mechanisms of DCM in vitro caused by LMNA mutations.
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spelling pubmed-94364182023-06-21 Generation of three iPSC lines from dilated cardiomyopathy patients carrying a pathogenic LMNA variant Lee, Chelsea Cho, Sangkyun Lai, Celine Shenoy, Sushma Vagelos, Randall Wu, Joseph C. Stem Cell Res Article LMNA-related dilated cardiomyopathy (DCM) is caused by pathogenic variants in LMNA and is characterized by left ventricular enlargement, reduced systolic function, and arrhythmia. Here, we generated three human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of three DCM patients carrying the same single heterozygous mutation, c.1129C > T, in LMNA. All lines expressed normal iPSC morphology, high levels of pluripotent markers, normal karyotypes, and could differentiate into the three germ layers. These iPSC lines can serve as invaluable tools to model pathological mechanisms of DCM in vitro caused by LMNA mutations. 2022-03 2021-12-21 /pmc/articles/PMC9436418/ /pubmed/34954454 http://dx.doi.org/10.1016/j.scr.2021.102638 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
Lee, Chelsea
Cho, Sangkyun
Lai, Celine
Shenoy, Sushma
Vagelos, Randall
Wu, Joseph C.
Generation of three iPSC lines from dilated cardiomyopathy patients carrying a pathogenic LMNA variant
title Generation of three iPSC lines from dilated cardiomyopathy patients carrying a pathogenic LMNA variant
title_full Generation of three iPSC lines from dilated cardiomyopathy patients carrying a pathogenic LMNA variant
title_fullStr Generation of three iPSC lines from dilated cardiomyopathy patients carrying a pathogenic LMNA variant
title_full_unstemmed Generation of three iPSC lines from dilated cardiomyopathy patients carrying a pathogenic LMNA variant
title_short Generation of three iPSC lines from dilated cardiomyopathy patients carrying a pathogenic LMNA variant
title_sort generation of three ipsc lines from dilated cardiomyopathy patients carrying a pathogenic lmna variant
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9436418/
https://www.ncbi.nlm.nih.gov/pubmed/34954454
http://dx.doi.org/10.1016/j.scr.2021.102638
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