Omics · study · 2026
Complete phenotype rescue through the restoration of full-length dystrophin using CRISPR/Cas9 genome editing in Duchenne muscular dystrophy patient-derived iPSCs carrying the deletion of two exons
Listed in NCBI GEO
Duchenne (DMD) muscular dystrophy is an X-linked disease affecting skeletal and cardiac muscle due to deficient dystrophin protein expression.
Description
Here we describe the full-length dystrophin restoration by CRISPR/Cas9 in an induced pluripotent stem cell (iPSC) line from a patient carrying a deletion of exons 49-50. Using sinle nuclei-RNA seq we compared the transcriptomic profile of engineered heart tissue (EHTs) derived from original Duchenne iPSC cells and edited iPSC.
This analyses allowed us to discriminate the effects of dystrophin restoration in specific cell types present in EHTs.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE280nnn/GSE280058 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE280058 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1176096 ncbi.nlm.nih.gov/bioproject/PRJNA1176096 ↗
project · from NCBI GEO
Topics
- Stated by source
- Expression profiling by high throughput sequencing · Homo sapiens
- From keywords
- Life Sciences
Provenance · 1 source records, 9 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE280058 | 13 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[anatomy].local:anatomy:heart | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[disease].local:disease:disease | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| 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[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 |