Generation of two induced pluripotent stem cell lines with heterozygous and homozygous amyotrophic lateral sclerosis-causing mutation P525L (c.1574C > T) in FUS gene

Mutations in the FUS (fused in sarcoma) gene are implicated in the neurodegenerative disease amyotrophic lateral sclerosis (ALS). However, the pathophysiology underlying these mutations remains elusive. In this study, we created two induced pluripotent stem cell (iPSC) lines through genetic modifica...

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Autores principales: Akter, Masuma, Cui, Haochen, Hosain, Md Abir, Ding, Baojin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10262954/
https://www.ncbi.nlm.nih.gov/pubmed/37116345
http://dx.doi.org/10.1016/j.scr.2023.103103
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author Akter, Masuma
Cui, Haochen
Hosain, Md Abir
Ding, Baojin
author_facet Akter, Masuma
Cui, Haochen
Hosain, Md Abir
Ding, Baojin
author_sort Akter, Masuma
collection PubMed
description Mutations in the FUS (fused in sarcoma) gene are implicated in the neurodegenerative disease amyotrophic lateral sclerosis (ALS). However, the pathophysiology underlying these mutations remains elusive. In this study, we created two induced pluripotent stem cell (iPSC) lines through genetic modification of a healthy hiPSC line (WTC11, UCSFi001-A). These iPSC lines carry the heterozygous and homozygous P525L (c.1574C > T) mutation in the FUS gene. We confirmed that both cell lines possess typical stem cell morphology, normal karyotype, and pluripotency. Our iPSC lines offer a valuable resource for investigating the pathological mechanisms underlying the FUS mutation P525L in ALS.
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spelling pubmed-102629542023-06-14 Generation of two induced pluripotent stem cell lines with heterozygous and homozygous amyotrophic lateral sclerosis-causing mutation P525L (c.1574C > T) in FUS gene Akter, Masuma Cui, Haochen Hosain, Md Abir Ding, Baojin Stem Cell Res Article Mutations in the FUS (fused in sarcoma) gene are implicated in the neurodegenerative disease amyotrophic lateral sclerosis (ALS). However, the pathophysiology underlying these mutations remains elusive. In this study, we created two induced pluripotent stem cell (iPSC) lines through genetic modification of a healthy hiPSC line (WTC11, UCSFi001-A). These iPSC lines carry the heterozygous and homozygous P525L (c.1574C > T) mutation in the FUS gene. We confirmed that both cell lines possess typical stem cell morphology, normal karyotype, and pluripotency. Our iPSC lines offer a valuable resource for investigating the pathological mechanisms underlying the FUS mutation P525L in ALS. 2023-06 2023-04-24 /pmc/articles/PMC10262954/ /pubmed/37116345 http://dx.doi.org/10.1016/j.scr.2023.103103 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
Akter, Masuma
Cui, Haochen
Hosain, Md Abir
Ding, Baojin
Generation of two induced pluripotent stem cell lines with heterozygous and homozygous amyotrophic lateral sclerosis-causing mutation P525L (c.1574C > T) in FUS gene
title Generation of two induced pluripotent stem cell lines with heterozygous and homozygous amyotrophic lateral sclerosis-causing mutation P525L (c.1574C > T) in FUS gene
title_full Generation of two induced pluripotent stem cell lines with heterozygous and homozygous amyotrophic lateral sclerosis-causing mutation P525L (c.1574C > T) in FUS gene
title_fullStr Generation of two induced pluripotent stem cell lines with heterozygous and homozygous amyotrophic lateral sclerosis-causing mutation P525L (c.1574C > T) in FUS gene
title_full_unstemmed Generation of two induced pluripotent stem cell lines with heterozygous and homozygous amyotrophic lateral sclerosis-causing mutation P525L (c.1574C > T) in FUS gene
title_short Generation of two induced pluripotent stem cell lines with heterozygous and homozygous amyotrophic lateral sclerosis-causing mutation P525L (c.1574C > T) in FUS gene
title_sort generation of two induced pluripotent stem cell lines with heterozygous and homozygous amyotrophic lateral sclerosis-causing mutation p525l (c.1574c > t) in fus gene
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10262954/
https://www.ncbi.nlm.nih.gov/pubmed/37116345
http://dx.doi.org/10.1016/j.scr.2023.103103
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