Department of Biochemistry and Molecular Biology, Louisiana State University Health Sciences, Center at Shreveport, Shreveport, LA 71130-3932, USA.
Department of Biochemistry and Molecular Biology, Louisiana State University Health Sciences, Center at Shreveport, Shreveport, LA 71130-3932, USA.
Stem Cell Res. 2023 Jun;69:103078. doi: 10.1016/j.scr.2023.103078. Epub 2023 Mar 21.
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.
RNA 结合蛋白 FUS（肉瘤中融合）的突变与肌萎缩侧索硬化症（ALS）有关，但发病机制尚不完全清楚。为了模拟 ALS，我们通过对健康的 hiPSC 系（WTC11，UCSFi001-A）进行基因修饰，产生了两条携带 FUS 基因杂合和纯合 R521G（c.1561C > G）突变的诱导多能干细胞（iPSC）系。这两条系均表现出正常的干细胞形态和核型，表达多能标志物，并且能够分化为三个胚层，为确定 ALS 中 R521G 的 FUS 突变的病理机制提供了有价值的资源。
