ID   STBCi025-B
AC   CVCL_RB83
SY   SFC834-03-03
DR   BioSamples; SAMEA104493658
DR   EBiSC; STBCi025-B
DR   ECACC; 66540692
DR   hPSCreg; STBCi025-B
DR   Wikidata; Q54956406
RX   PubMed=26905200;
RX   PubMed=30503143;
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; 66540692; 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_RB82 ! STBCi025-A
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).
//
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).
//