ID   UOXFi008-B
AC   CVCL_LE41
SY   MK144-7; iPS-MK144-7
DR   BioSamples; SAMEA103887561
DR   EBiSC; UOXFi008-B
DR   ECACC; 66540551
DR   EGA; EGAS00001002755
DR   GEO; GSM2055808
DR   GEO; GSM2055814
DR   hPSCreg; UOXFi008-B
DR   Wikidata; Q54991460
RX   PubMed=28096185;
CC   From: University of Oxford; Oxford; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=28096185).
CC   Omics: Genome sequenced.
CC   Omics: Transcriptome analysis by microarray.
CC   Discontinued: ECACC; 66540551; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A8Y4 ! MK144
SX   Female
AG   57Y
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 30-01-24; Version: 14
//
RX   PubMed=28096185; DOI=10.1093/hmg/ddw412;
RA   Sandor C., Robertson P., Lang C., Heger A., Booth H., Vowles J.,
RA   Witty L., Bowden R., Hu M.T., Cowley S.A., Wade-Martins R., Webber C.;
RT   "Transcriptomic profiling of purified patient-derived dopamine neurons
RT   identifies convergent perturbations and therapeutics for Parkinson's
RT   disease.";
RL   Hum. Mol. Genet. 26:552-566(2017).
//