ID   STBCi004-B
AC   CVCL_RB35
SY   SFC832-03-06
DR   BioSamples; SAMEA104615892
DR   EBiSC; STBCi004-B
DR   ECACC; 66540905
DR   hPSCreg; STBCi004-B
DR   Wikidata; Q54956326
RX   PubMed=32359446;
CC   From: StemBANCC; Oxford; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=32359446).
CC   Discontinued: EBiSC; STBCi004-B; true.
CC   Discontinued: ECACC; 66540905; 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)
OI   CVCL_RB34 ! STBCi004-A
OI   CVCL_RB36 ! STBCi004-C
SX   Female
AG   77Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 12
//
RX   PubMed=32359446; DOI=10.1016/j.stemcr.2020.04.001;
RA   Lee H., Flynn R., Sharma I., Haberman E., Carling P.J., Nicholls F.J.,
RA   Stegmann M., Vowles J., Haenseler W., Wade-Martins R., James W.S.,
RA   Cowley S.A.;
RT   "LRRK2 is recruited to phagosomes and co-recruits RAB8 and RAB10 in
RT   human pluripotent stem cell-derived macrophages.";
RL   Stem Cell Reports 14:940-955(2020).
//