{"database":"GEO","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Other":["ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE324nnn/GSE324449/"]},"type":"primary"},"statusCode":"OK","statusCodeValue":200}],"scores":null,"additional":{"omics_type":["Transcriptomics"],"species":["Homo sapiens"],"gds_type":["Expression profiling by high throughput sequencing"],"full_dataset_link":["https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE324449"],"repository":["GEO"],"entry_type":["GSE"],"additional_accession":[]},"is_claimable":false,"name":"Single-cell transcriptomic profiling of SPAST exon 17 deletion–induced neurodegeneration in human cortical organoids","description":"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.","dates":{"publication":"2026/04/07"},"accession":"GSE324449","cross_references":{"GSM":["GSM9576418","GSM9576417"],"GPL":["34284"],"GSE":["324449"],"taxon":["Homo sapiens"]}}