Generation of two induced pluripotent stem cell lines with heterozygous and homozygous amyotrophic lateral sclerosis-causing mutation R521G (c.1561C > G) in FUS gene


Mutations in the RNA-binding protein FUS (fused in sarcoma) are linked to amyotrophic lateral sclerosis (ALS), but the pathogenesis is not fully understood. For modeling ALS, here we generated two induced pluripotent stem cell (iPSC) lines carrying the heterozygous and homozygous R521G (c.1561C > G) mutation in the FUS gene via genetic modification of a healthy hiPSC line (WTC11, UCSFi001-A). Both lines show normal stem cell morphology and karyotype, express pluripotent markers, and can differentiate into three germ layers, providing a valuable resource in determining the pathological mechanisms underlying the FUS mutation of R521G 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;69:103078
PubMed 36965406
PubMed Central PMC10353567
DOI 10.1016/j.scr.2023.103078

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