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Single-cell transcriptomic profiling of SPAST exon 17 deletion–induced neurodegeneration in human cortical organoids

ABSTRACT: Alu-mediated structural variants are enriched in the human genome but their contribution to neurodegeneration remains poorly defined. We generated CRISPR/Cas9-edited human pluripotent stem cells harboring a patient-relevant deletion of exon 17 in the SPAST gene (SPASTΔe17), a recurrent mutation associated with hereditary spastic paraplegia (SPG4) with dementia. Wild-type (WT) and SPASTΔe17 hPSCs were differentiated into cortical organoids and subjected to single-cell RNA sequencing at day 100 of differentiation.

ORGANISM(S): Homo sapiens

PROVIDER: GSE324449 | GEO | 2026/04/07

REPOSITORIES: GEO

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