Omics · study · 2026
Effects of RRAGD p.(Ser76Leu) variant in human induced pluripotent stem cell-derived cardiomyocytes gene expression
Listed in NCBI GEO
RRAGD p.(Ser76Leu) has been associated with dilated cardiomyopathy.
Description
To study the effects of this variant on cardiomyocyte gene expression profile, we generated a human induced pluripotent stem cell-derived cardiomyocyte (hiPSC-CM) model carrying heterozygous mutation of the variant. After bulk-RNA seq, we showed that 124 genes were upregulated and 48 genes were downregulated in RRAGD p.(Ser76Leu) hiPSC-CMs compared to RRAGD WT hiPSC-CMs.
Further analyses revealed that pathways related to muscle development were downregulated, while pathways associated with actin cytoskeleton regulation were upregulated.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE323nnn/GSE323990 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE323990 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1432913 ncbi.nlm.nih.gov/bioproject/PRJNA1432913 ↗
project · from NCBI GEO
- PubMed 42329298 pubmed.ncbi.nlm.nih.gov/42329298 ↗
publication · from NCBI GEO
Topics
- Stated by source
- Expression profiling by high throughput sequencing · Homo sapiens
- From keywords
- Life Sciences
- Inferred from text
- Cardiomyopathy 75%
Provenance · 1 source records, 8 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE323990 | 13 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[disease].local:disease:cardiomyopathy | 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 |