ID   UOXFi002-A
SY   MK082-26
DR   BioSamples; SAMEA4458672
DR   EBiSC; UOXFi002-A
DR   ECACC; 66540388
DR   hPSCreg; UOXFi002-A
DR   Wikidata; Q54991436
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=30503143).
CC   Discontinued: EBiSC; UOXFi002-A; true.
CC   Discontinued: ECACC; 66540388; 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_A8Y8 ! MK082
SX   Male
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 01-12-16; Last updated: 30-01-24; Version: 15
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).