Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients

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

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Autores principales: Cho, Sangkyun, Lee, Chelsea, Lai, Celine, Zhuge, Yan, Haddad, Francois, Fowler, Michael, Sallam, Karim, Wu, Joseph C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9250545/
https://www.ncbi.nlm.nih.gov/pubmed/34999423
http://dx.doi.org/10.1016/j.scr.2022.102657
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author Cho, Sangkyun
Lee, Chelsea
Lai, Celine
Zhuge, Yan
Haddad, Francois
Fowler, Michael
Sallam, Karim
Wu, Joseph C.
author_facet Cho, Sangkyun
Lee, Chelsea
Lai, Celine
Zhuge, Yan
Haddad, Francois
Fowler, Michael
Sallam, Karim
Wu, Joseph C.
author_sort Cho, Sangkyun
collection PubMed
description LMNA-related dilated cardiomyopathy (LMNA-DCM) is caused by pathogenic variants in the LMNA gene and is characterized by left ventricular chamber 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.398 G > A, in LMNA. All lines exhibited normal iPSC morphology, expressed high levels of pluripotency markers, showed normal karyotypes, and could differentiate into the three germ layers. These patient-specific iPSC lines can serve as invaluable tools to model in vitro pathological mechanisms of LMNA-DCM.
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spelling pubmed-92505452023-07-03 Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients Cho, Sangkyun Lee, Chelsea Lai, Celine Zhuge, Yan Haddad, Francois Fowler, Michael Sallam, Karim Wu, Joseph C. Stem Cell Res Article LMNA-related dilated cardiomyopathy (LMNA-DCM) is caused by pathogenic variants in the LMNA gene and is characterized by left ventricular chamber 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.398 G > A, in LMNA. All lines exhibited normal iPSC morphology, expressed high levels of pluripotency markers, showed normal karyotypes, and could differentiate into the three germ layers. These patient-specific iPSC lines can serve as invaluable tools to model in vitro pathological mechanisms of LMNA-DCM. 2022-03 2022-01-03 /pmc/articles/PMC9250545/ /pubmed/34999423 http://dx.doi.org/10.1016/j.scr.2022.102657 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
Cho, Sangkyun
Lee, Chelsea
Lai, Celine
Zhuge, Yan
Haddad, Francois
Fowler, Michael
Sallam, Karim
Wu, Joseph C.
Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients
title Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients
title_full Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients
title_fullStr Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients
title_full_unstemmed Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients
title_short Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients
title_sort heterozygous lmna mutation-carrying ipsc lines from three cardiac laminopathy patients
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9250545/
https://www.ncbi.nlm.nih.gov/pubmed/34999423
http://dx.doi.org/10.1016/j.scr.2022.102657
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