ID   ND41181
AC   CVCL_UF70
DR   Coriell; ND41181
DR   Wikidata; Q98127498
RX   PubMed=27264186;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (Coriell=ND41181).
CC   Discontinued: Coriell; ND41181; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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_EY94 ! ND33879
SX   Female
AG   66Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=27264186; DOI=10.1016/j.celrep.2016.05.022;
RA   Lin L., Goke J., Cukuroglu E., Dranias M.R., VanDongen A.M.J.,
RA   Stanton L.W.;
RT   "Molecular features underlying neurodegeneration identified through in
RT   vitro modeling of genetically diverse Parkinson's disease patients.";
RL   Cell Rep. 15:2411-2426(2016).
//