ID   UOXFi003-A
AC   CVCL_EE31
SY   MK088-1; GBA-PD 2#1; GBA-PD 2 iPSc clone 1
DR   BioSamples; SAMEA4454477
DR   EBiSC; UOXFi003-A
DR   ECACC; 66540391
DR   GEO; GSM1291202
DR   GEO; GSM1291209
DR   hPSCreg; UOXFi003-A
DR   Wikidata; Q54991439
RX   PubMed=26905200;
RX   PubMed=30503143;
CC   From: University of Oxford; Oxford; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 4177; GBA; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=26905200).
CC   Omics: SNP array analysis.
CC   Omics: Transcriptome analysis.
CC   Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens
HI   CVCL_A8Y9 ! MK088
SX   Male
AG   46Y
CA   Induced pluripotent stem cell
DT   Created: 13-07-16; Last updated: 17-03-22; Version: 12
//
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., 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).
//