GEOapplication/xmlftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE324nnn/GSE324449/primaryOK200TranscriptomicsHomo sapiensExpression profiling by high throughput sequencinghttps://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE324449GEOGSEfalseSingle-cell transcriptomic profiling of SPAST exon 17 deletion–induced neurodegeneration in human cortical organoidsAlu-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.2026/04/07GSE324449GSM9576418GSM957641734284324449Homo sapiens