Omics · study · 2026
Effects of adenovirus mediated GLA expression on gene expression of hiPSC-derived ventricular cardiomyocytes from control and Fabri Disease Lines
Listed in NCBI GEO
Fabry disease is an X-linked lysosomal storage disorder caused by loss-of-function mutations in GLA, resulting in α-galactosidase A deficiency and glycosphingolipid accumulation that contributes to systemic disease including kidney disease, stroke, and cardiac arrhythmias.
Description
To model Fabry-associated arrhythmogenesis, we generated hiPSC-derived ventricular cardiomyocytes (hiPSC-VCMs) from patient and control iPSCs and compared electrophysiology, calcium transients, and gene expression profiles between groups.
Fabry hiPSC-VCMs displayed intrinsic chaotic arrhythmias and abnormal calcium handling along with dysregulated transcription of genes encoding ion channels. To assess the impact of restoring enzyme activity, both control and Fabry hiPSC-VCMs were infected with an adenovirus to drive GLA overexpression, and GLA restoration did not prevent complex arrhythmias or normalize ion-channel gene expression.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE327nnn/GSE327944 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE327944 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1453253 ncbi.nlm.nih.gov/bioproject/PRJNA1453253 ↗
project · from NCBI GEO
- PubMed 42111134 pubmed.ncbi.nlm.nih.gov/42111134 ↗
publication · 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 | GSE327944 | 14 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 (65%) |
| 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 |