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Cellosaurus UOXFi003-A (CVCL_EE31)

[Text version]
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; 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
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
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)

Cross-references
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 creation13-Jul-2016
Last entry update30-Jan-2024
Version number16