ID   STBCi025-A
AC   CVCL_RB82
SY   SFC834-03-01
DR   BioSamples; SAMEA104493656
DR   EBiSC; STBCi025-A
DR   ECACC; 66540691
DR   hPSCreg; STBCi025-A
DR   Wikidata; Q54956405
RX   PubMed=26905200;
CC   From: StemBANCC; Oxford; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=26905200).
CC   Discontinued: ECACC; 66540691; true.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RB83 ! STBCi025-B
OI   CVCL_RB84 ! STBCi025-C
SX   Male
AG   72Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 13
//
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).
//