ID   UOXFi001-B
AC   CVCL_EE28
SY   MK071-3; iPS.MK071.3; GBA-PD 1#2; GBA-PD 1 iPSc clone 3
DR   BioSamples; SAMEA4453900
DR   EBiSC; UOXFi001-B
DR   ECACC; 66540385
DR   GEO; GSM1291201
DR   GEO; GSM1291207
DR   hPSCreg; UOXFi001-B
DR   Wikidata; Q54991433
RX   PubMed=26905200;
RX   PubMed=30503143;
CC   From: University of Oxford; Oxford; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=26905200).
CC   Omics: SNP array analysis.
CC   Omics: Transcriptome analysis by microarray.
CC   Discontinued: ECACC; 66540385; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A8Z6 ! MK071
SX   Female
AG   81Y
CA   Induced pluripotent stem cell
DT   Created: 13-07-16; Last updated: 30-01-24; Version: 15
//
RX   PubMed=26905200; DOI=10.1016/j.stemcr.2016.01.013;
RA   Fernandes H.J.R., Hartfield E.M., Christian H.C., Emmanoulidou E.,
RA   Zheng Y., Booth H., Bogetofte H., Lang C., Ryan B.J., Sardi S.P.,
RA   Badger J., Vowles J., Evetts S., Tofaris G.K., Vekrellis K.,
RA   Talbot K., Hu M.T., James W., Cowley S.A., Wade-Martins R.;
RT   "ER stress and autophagic perturbations lead to elevated extracellular
RT   alpha-synuclein in GBA-N370S Parkinson's iPSC-derived dopamine
RT   neurons.";
RL   Stem Cell Reports 6:342-356(2016).
//
RX   PubMed=30503143; DOI=10.1016/j.stem.2018.10.023;
RA   Lang C., Campbell K.R., Ryan B.J., Carling P.J., Attar M., Vowles J.,
RA   Perestenko O.V., Bowden R., Baig F., Kasten M., Hu M.T., Cowley S.A.,
RA   Webber C., Wade-Martins R.;
RT   "Single-cell sequencing of iPSC-dopamine neurons reconstructs disease
RT   progression and identifies HDAC4 as a regulator of Parkinson cell
RT   phenotypes.";
RL   Cell Stem Cell 24:93-106.e6(2019).
//