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Single-cell RNA sequencing analysis of iPSC-derived motor neurons from an ALS patient carrying ATXN2 intermediate repeat expansions and a healthy control

GSE224582 Homo sapiens Expression profiling by high throughput sequencing 4 samples Submitted 2024/07/16 Platform GPL18573
Summary
Intermediate-length repeat expansions in ATAXIN-2 (ATXN2) are a strong genetic risk factor for amyotrophic lateral sclerosis (ALS). At the molecular level, ATXN2 intermediate expansions enhance TDP-43 toxicity and pathology. However, whether this triggers ALS pathogenesis at the cellular and functional level remains unknown. Here, we developed a human iPSC-derived model to investigate whether motor neurons derived from an ALS patient carrying ATXN2 intermediate repeat expansions (ALS-G) are transcriptomically distinct from a healthy control(OH2.6). For that, we generated a single cell RNA sequencing dataset consisting of a total of 384 cells.
Published in
ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes
Vieira de Sá R, Sudria-Lopez E, Cañizares Luna M et al. · Nature communications 2024 · PMID 39209824 · doi:10.1038/s41467-024-51676-0
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Also filed as BioProject PRJNA934452 and SRA study SRP424174. Searching any of these in the dataset finder brings you back here.

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