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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Format: | Article |
Language: | English |
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Elsevier
2023-06-01
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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. |
first_indexed | 2024-03-13T08:30:52Z |
format | Article |
id | doaj.art-6b9d34e392eb4ced80444e245c286919 |
institution | Directory Open Access Journal |
issn | 1873-5061 |
language | English |
last_indexed | 2024-03-13T08:30:52Z |
publishDate | 2023-06-01 |
publisher | Elsevier |
record_format | Article |
series | Stem Cell Research |
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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