ID   UOXFi001-A
AC   CVCL_EE27
SY   MK071-1; iPS.MK071.1; GBA-PD 1#1; GBA-PD 1 iPSc clone 1
DR   BioSamples; SAMEA4453897
DR   EBiSC; UOXFi001-A
DR   ECACC; 66540384
DR   GEO; GSM1291200
DR   GEO; GSM1291206
DR   hPSCreg; UOXFi001-A
DR   SKIP; SKIP002855
DR   Wikidata; Q54991432
RX   PubMed=26905200;
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; 66540384; 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).
//