ID   JR036
AC   CVCL_A8Y5
DR   GEO; GSM2055811
DR   Wikidata; Q102114318
RX   PubMed=28096185;
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=28096185).
CC   Omics: Transcriptomics; Microarray.
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)
SX   Male
AG   50Y
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 10-04-25; Version: 8
//
RX   PubMed=28096185; DOI=10.1093/hmg/ddw412; PMCID=PMC5409122;
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).
//