Single-cell RNA sequencing analysis of iPSC-derived motor neurons from an ALS patient carrying ATXN2 intermediate repeat expansions and a healthy control
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ABSTRACT: 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.
ORGANISM(S): Homo sapiens
PROVIDER: GSE224582 | GEO | 2024/07/16
REPOSITORIES: GEO
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