Cellosaurus cell line UOXFi001-B (CVCL

Cellosaurus UOXFi001-B (CVCL_EE28)

Cross-references
Cell line name	UOXFi001-B
Synonyms	MK071-3; iPS.MK071.3; GBA-PD 1#2; GBA-PD 1 iPSc clone 3
Accession	CVCL_EE28
Resource Identification Initiative	To cite this cell line use: UOXFi001-B (RRID:CVCL_EE28)
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) 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; UOXFi001-B ECACC; 66540385 - Discontinued
Cell line databases/resources	hPSCreg; UOXFi001-B
Biological sample resources	BioSamples; SAMEA4453900
Encyclopedic resources	Wikidata; Q54991433
Gene expression databases	GEO; GSM1291201 GEO; GSM1291207
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	16