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Cellosaurus UOXFi002-A (CVCL_IJ04)

[Text version]
Cell line name UOXFi002-A
Synonyms MK082-26
Accession CVCL_IJ04
Resource Identification Initiative To cite this cell line use: UOXFi002-A (RRID:CVCL_IJ04)
Comments From: University of Oxford; Oxford; United Kingdom.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=30503143).
Disease Parkinson's disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A8Y8 (MK082)
Sex of cell Male
Age at sampling 51Y
Category Induced pluripotent stem cell
Publications

PubMed=30503143; DOI=10.1016/j.stem.2018.10.023
Lang C., Campbell K.R., Ryan B.J., Carling P.J., Attar M., Vowles J., Perestenko O.V., Bowden R., Baig F., Kasten M., Hu M.T., Cowley S.A., Webber C., Wade-Martins R.
Single-cell sequencing of iPSC-dopamine neurons reconstructs disease progression and identifies HDAC4 as a regulator of Parkinson cell phenotypes.
Cell Stem Cell 24:93-106.e6(2019)

Cross-references
Cell line collections (Providers) EBiSC; UOXFi002-A - Discontinued
ECACC; 66540388 - Discontinued
Cell line databases/resources hPSCreg; UOXFi002-A
Biological sample resources BioSamples; SAMEA4458672
Encyclopedic resources Wikidata; Q54991436
Entry history
Entry creation01-Dec-2016
Last entry update30-Jan-2024
Version number15