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Cellosaurus STBCi025-B (CVCL_RB83)

[Text version]
Cell line name STBCi025-B
Synonyms SFC834-03-03
Accession CVCL_RB83
Resource Identification Initiative To cite this cell line use: STBCi025-B (RRID:CVCL_RB83)
Comments From: StemBANCC; Oxford; United Kingdom.
Cell type: Fibroblast; CL=CL_0000057.
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)
Originate from same individual CVCL_RB82 ! STBCi025-A
CVCL_RB84 ! STBCi025-C
Sex of cell Male
Age at sampling 72Y
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)

Cross-references
Cell line collections (Providers) EBiSC; STBCi025-B
ECACC; 66540692 - Discontinued
Cell line databases/resources hPSCreg; STBCi025-B
Biological sample resources BioSamples; SAMEA104493658
Encyclopedic resources Wikidata; Q54956406
Entry history
Entry creation05-Mar-2018
Last entry update30-Jan-2024
Version number13