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Cellosaurus UOXFi001-A (CVCL_EE27)

[Text version]
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; 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
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)

Cross-references
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 creation13-Jul-2016
Last entry update30-Jan-2024
Version number15