iPSC-derived motor neurons FUSR503fs mutation
收藏NIAID Data Ecosystem2026-05-02 收录
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https://www.ncbi.nlm.nih.gov/sra/SRP501481
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资源简介：
Fused in sarcoma (FUS) mutations represent the most common genetic etiology of juvenile amyotrophic lateral sclerosis (JALS), for which effective treatments are lacking. In a prior report, we identified a novel FUS mutation, c.1509dupA: p.R503fs (FUSR503fs), in a sporadic JALS patient. Transcriptomic analysis reveals upregulation of genes associated with viral infection and downregulation of genes involved in neural function maintenance.
创建时间：
2025-05-01
