Data · dataset · 2023
Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells
Listed in San Raffaele Open Research Data Repository and Teesside University Research Data Repository — shown once because both records carry DOI 10.17632/p2zt42p4f6.1
we performed a functional analysis of the BrS familial rare variant NM_198056.2:c.3673G>A (NP_932173.1:p.Glu1225Lys), which has been never functionally characterized before in a cardi-ac-relevant context, as the human cardiomyocyte.
Description
Using a specific lentiviral vector encoding a GFP-tagged SCN5A gene carrying the specific c.3673G>A variant and CMs differentiated from control PSCs (PSC-CMs), we demonstrated an impairment of the mutated Nav1.5, thus suggesting the pathogenicity of the rare BrS detected variant.
Links
Where it is published
- DOI doi.org/10.17632/p2zt42p4f6.1 ↗
DOI / persistent id · from ordr hsr it
Catalogue records · 2
- OAI-PMH record ordr.hsr.it/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=oai%3Aordr… ↗
metadata API · from ordr hsr it
- OAI-PMH record data.mendeley.com/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=oai%3Adata… ↗
metadata API · from researchdata tees ac uk
Topics
Provenance · 2 source records, 9 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| San Raffaele Open Research Data Repository | oai:ordr.hsr.it/p2zt42p4f6.1 | 16 h ago | JSON v1 |
| Teesside University Research Data Repository | oai:data.mendeley.com/p2zt42p4f6.1 | 8 h ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · ordr hsr it | connector:ordr_hsr_it@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · ordr hsr it | connector:ordr_hsr_it@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · ordr hsr it | connector:ordr_hsr_it@1.0.0 | |
| description | source · ordr hsr it | connector:ordr_hsr_it@1.0.0 | /metadata/dc/description |
| license | source · ordr hsr it | connector:ordr_hsr_it@1.0.0 | /metadata/dc/rights |
| publication_date | source · ordr hsr it | connector:ordr_hsr_it@1.0.0 | |
| title | source · ordr hsr it | connector:ordr_hsr_it@1.0.0 | /metadata/dc/title |