Cellosaurus cell line UOXFi002-A (CVCL

Cellosaurus UOXFi002-A (CVCL_IJ04)

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 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 Charmaine Lang, Kieran R. Campbell, Brent J. Ryan, Phillippa J. Carling, Moustafa Attar, Jane Vowles, Olga V. Perestenko, Rory Bowden, Fahd Baig, Meike Kasten, Michele T. Hu ...Show all 14 authors... , Sally Anne Cowley, Caleb Webber, Richard Wade-Martins; Show fewer authors 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	10-Apr-2025
Version number	17