Cellosaurus cell line UOXFi003-A (CVCL

Cellosaurus UOXFi003-A (CVCL_EE31)

Cross-references
Cell line name	UOXFi003-A
Synonyms	MK088-1; GBA-PD 2#1; GBA-PD 2 iPSc clone 1
Accession	CVCL_EE31
Resource Identification Initiative	To cite this cell line use: UOXFi003-A (RRID:CVCL_EE31)
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_A8Y9 (MK088)
Sex of cell	Male
Age at sampling	46Y
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) 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; UOXFi003-A ECACC; 66540391 - Discontinued
Cell line databases/resources	hPSCreg; UOXFi003-A
Biological sample resources	BioSamples; SAMEA4454477
Encyclopedic resources	Wikidata; Q54991439
Gene expression databases	GEO; GSM1291202 GEO; GSM1291209
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	17