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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Main Authors: Masuma Akter, Haochen Cui, Md Abir Hosain, Baojin Ding
Format: Article
Language:English
Published: Elsevier 2023-06-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506123000892
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author Masuma Akter
Haochen Cui
Md Abir Hosain
Baojin Ding
author_facet Masuma Akter
Haochen Cui
Md Abir Hosain
Baojin Ding
author_sort Masuma Akter
collection DOAJ
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 doaj.art-6b9d34e392eb4ced80444e245c2869192023-05-31T04:44:12ZengElsevierStem Cell Research1873-50612023-06-0169103103Generation of two induced pluripotent stem cell lines with heterozygous and homozygous amyotrophic lateral sclerosis-causing mutation P525L (c.1574C > T) in FUS geneMasuma Akter0Haochen Cui1Md Abir Hosain2Baojin Ding3Department of Biochemistry and Molecular Biology, Louisiana State University Health Sciences Center at Shreveport, Shreveport, LA 71130-3932, USADepartment of Biochemistry and Molecular Biology, Louisiana State University Health Sciences Center at Shreveport, Shreveport, LA 71130-3932, USADepartment of Biochemistry and Molecular Biology, Louisiana State University Health Sciences Center at Shreveport, Shreveport, LA 71130-3932, USACorresponding author.; Department of Biochemistry and Molecular Biology, Louisiana State University Health Sciences Center at Shreveport, Shreveport, LA 71130-3932, USAMutations 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.http://www.sciencedirect.com/science/article/pii/S1873506123000892
spellingShingle Masuma Akter
Haochen Cui
Md Abir Hosain
Baojin Ding
Generation of two induced pluripotent stem cell lines with heterozygous and homozygous amyotrophic lateral sclerosis-causing mutation P525L (c.1574C > T) in FUS gene
Stem Cell Research
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
url http://www.sciencedirect.com/science/article/pii/S1873506123000892
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