Cellosaurus cell line UOXFi002-A (CVCL

Cross-references
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; 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; PMCID=PMC6327112 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)
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 creation	01-Dec-2016
Last entry update	19-Dec-2024
Version number	16