ID   ND40019
AC   CVCL_Y830
SY   ND40019*C
DR   Coriell; ND40019
DR   NHCDR; ND40019
DR   SKIP; SKIP001373
DR   SKIP; SKIP004718
DR   Wikidata; Q54930140
RX   PubMed=26651604;
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (NHCDR=ND40019).
CC   Donor information: At sampling donor was not affected with Parkinson disease but at risk for disease.
CC   Discontinued: Coriell; ND40019; 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)
OI   CVCL_Y831 ! ND40020
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 17
//
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).
//