Omics · study · 2026
Single-cell transcriptomic profiling of SPAST exon 17 deletion–induced neurodegeneration in human cortical organoids
Listed in NCBI GEO
Alu-mediated structural variants are enriched in the human genome but their contribution to neurodegeneration remains poorly defined.
Description
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.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE324nnn/GSE324449 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE324449 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1435162 ncbi.nlm.nih.gov/bioproject/PRJNA1435162 ↗
project · from NCBI GEO
- PubMed 42521669 pubmed.ncbi.nlm.nih.gov/42521669 ↗
publication · from NCBI GEO
Topics
- Stated by source
- Expression profiling by high throughput sequencing · Homo sapiens
- From keywords
- Life Sciences
- Inferred from text
- Bioinformatics and computational biology 70% · RNA sequencing 75% · Sequencing 75% · Single-cell RNA sequencing 75%
Provenance · 1 source records, 11 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE324449 | 12 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[field].anzsrc:group:3102 | enrichment · NCBI GEO | taxonomy-embedding@1.1.0 | title+keywords+description (70%) |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:expression-profiling-by-high-throughput-sequencing | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[modality].local:modality:rna-seq | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[modality].local:modality:sequencing | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[modality].local:modality:single-cell-rna-seq | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[organism].NCBITaxon:9606 | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /taxon |
| description | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /summary |
| publication_date | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| title | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /title |