ID   ND35367
AC   CVCL_T845
SY   ND35367*C; ND35367*F
DR   BioSample; SAMN00805709
DR   Coriell; ND35367
DR   NHCDR; ND35367
DR   SKIP; SKIP001369
DR   SKIP; SKIP004684
DR   Wikidata; Q54929852
RX   PubMed=26651604;
RX   PubMed=27264186;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Homozygous (NHCDR=ND35367).
CC   Discontinued: Coriell; ND35367; true.
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_A9R0 ! ND32948
SX   Male
AG   79Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 21
//
RX   PubMed=26651604; DOI=10.1016/j.stemcr.2015.11.004; PMCID=PMC4682343;
RA   Schwab A.J., Ebert A.D.;
RT   "Neurite aggregation and calcium dysfunction in iPSC-derived sensory
RT   neurons with Parkinson's disease-related LRRK2 G2019S mutation.";
RL   Stem Cell Reports 5:1039-1052(2015).
//
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).
//