Cellosaurus cell line UOXFi001-A (CVCL

Cellosaurus UOXFi001-A (CVCL_EE27)

Cross-references
Cell line name	UOXFi001-A
Synonyms	MK071-1; iPS.MK071.1; GBA-PD 1#1; GBA-PD 1 iPSc clone 1
Accession	CVCL_EE27
Resource Identification Initiative	To cite this cell line use: UOXFi001-A (RRID:CVCL_EE27)
Comments	From: University of Oxford; Oxford; United Kingdom. Omics: SNP array analysis. Omics: Transcriptome analysis by microarray. 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=26905200).
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_A8Z6 (MK071)
Sex of cell	Female
Age at sampling	81Y
Category	Induced pluripotent stem cell
Publications	PubMed=26905200; DOI=10.1016/j.stemcr.2016.01.013; PMCID=PMC4788783 Fernandes H.J.R., Hartfield E.M., Christian H.C., Emmanoulidou E., Zheng Y., Booth H., Bogetofte H., Lang C., Ryan B.J., Sardi S.P., Badger J., Vowles J., Evetts S., Tofaris G.K., Vekrellis K., Talbot K., Hu M.T., James W., Cowley S.A., Wade-Martins R. ER stress and autophagic perturbations lead to elevated extracellular alpha-synuclein in GBA-N370S Parkinson's iPSC-derived dopamine neurons. Stem Cell Reports 6:342-356(2016)
Cell line collections (Providers)	EBiSC; UOXFi001-A ECACC; 66540384 - Discontinued
Cell line databases/resources	hPSCreg; UOXFi001-A SKIP; SKIP002855
Biological sample resources	BioSamples; SAMEA4453897
Encyclopedic resources	Wikidata; Q54991432
Gene expression databases	GEO; GSM1291200 GEO; GSM1291206
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	16