ID   ND40020
AC   CVCL_Y831
SY   ND40020*C
DR   Coriell; ND40020
DR   NHCDR; ND40020
DR   SKIP; SKIP001374
DR   SKIP; SKIP004719
DR   Wikidata; Q54930141
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (NHCDR=ND40020).
CC   Donor information: At sampling donor was not affected with Parkinson disease but at risk for disease.
CC   Discontinued: Coriell; ND40020; 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_Y830 ! ND40019
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 17
//