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Cellosaurus UOXFi001-B (CVCL_EE28)

[Text version]

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.
Derived from sampling site: Skin; dermis.
Sequence variations Mutation; HGNC; 4177; GBA; 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)

PubMed=30503143; DOI=10.1016/j.stem.2018.10.023
Lang C., Campbell K.R., Ryan B.J., Carling P., 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 EBiSC; UOXFi001-B
ECACC; 66540385
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 creation13-Jul-2016
Last entry update16-Dec-2021
Version number10