A human-induced pluripotent stem cell (iPSC) line (SMUSHi006-A) from an ALS patient carrying a mutation c.1126C > T in the FUS gene
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. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Huang C, Qiu L, Zhou W, Shao C, Wang X, Zhang Q, Chen W, Xiong M, Huang M, Tang M, Zou L, Xu X |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Nov 9;82:103604 |
| PubMed | 39662462 |
| DOI | 10.1016/j.scr.2024.103604 |