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 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. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Akter M, Cui H, Abir Hosain M, Ding B
Journal Stem cell research
Publication Date 2023 Jun;69:103103
PubMed 37116345
PubMed Central PMC10262954
DOI 10.1016/j.scr.2023.103103

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