Data · dataset · 2026
Generation and characterization of human iPSC-derived NPC1I1061T/I10161T i3Neurons as a model for NPC1 disease
Listed in Teesside University Research Data Repository
This manuscript describes the generation of an inducible pluripotent stem cell (iPSC) line expressing a mutant form of NPC1.
Description
This variant, NPC1(I1061T/I1061T), represents a common pathogenic variant of NPC1 in NPC1 affected individuals. Upon differentiation of the iPSCs into i3Neurons, we characterized the cellular phenotype with respect to gycosylation of NPC1, accumulation of free cholesterol, and response to known therapeutics.
The results demonstrate that this cell line exhibits the expected characteristics of the NPC1(I1061/I1061T) mutant protein resulting in an NPC1 disease phenotype in these cells. This new cell line can be used as a neuronal model of Niemann-Pick disease, type C1.
Links
Where it is published
- DOI doi.org/10.17632/sctxy3sm9w.1 ↗
DOI / persistent id · from researchdata tees ac uk
Catalogue records · 1
- OAI-PMH record data.mendeley.com/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=oai%3Adata… ↗
metadata API · from researchdata tees ac uk
Topics
- From keywords
- Earth & Environmental Science · Engineering · Humanities · Life Sciences · Medicine & Health · Social Science
- Inferred from text
- Disease 75%
Provenance · 1 source records, 12 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| Teesside University Research Data Repository | oai:data.mendeley.com/sctxy3sm9w.1 | 9 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| concepts[disease].local:disease:disease | enrichment · researchdata tees ac uk | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[field].local:field:earth-environmental | mapping · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| concepts[field].local:field:engineering | mapping · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| concepts[field].local:field:humanities | mapping · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · researchdata tees ac uk | connector:researchdata_tees_ac_uk@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:social-science | mapping · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| description | source · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | /metadata/dc/description |
| license | source · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | /metadata/dc/rights |
| publication_date | source · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| title | source · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | /metadata/dc/title |