A human-induced pluripotent stem cell (iPSC) line (SMUSHi006-A) from an ALS patient carrying a mutation c.1126C > T in the FUS gene

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease. Four major genes associated with ALS—SOD1, TARDBP, FUS, and C9orf72—have been identified, with the fused in sarcoma (FUS) gene demonstrating considerable genetic heterogeneity. Our research group has previously establish...

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Bibliographic Details
Published in:Stem cell research 2025-02, Vol.82, p.103604, Article 103604
Main Authors: Huang, Chunyan, Qiu, Liying, Zhou, Wenyan, Shao, Congwen, Wang, Xichun, Zhang, Qiwen, Chen, Weilin, Xiong, Min, Huang, Min, Tang, Mei, Zou, Liangyu, Xu, Xueqing
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Language:English
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Summary:Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease. Four major genes associated with ALS—SOD1, TARDBP, FUS, and C9orf72—have been identified, with the fused in sarcoma (FUS) gene demonstrating considerable genetic heterogeneity. Our research group has previously established an induced pluripotent stem (iPS) cell line harboring the c.1562G > A mutation in the FUS gene. The objective of this study is to create another iPS cell line featuring the pathogenic c.1126C > T mutation in the FUS gene. This research aims not only to establish a disease model for ALS linked to FUS mutations but also to pave the way for potential therapeutic interventions.
ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2024.103604