ID   ND32943
AC   CVCL_EY27
DR   Coriell; ND32943
DR   NHCDR; ND32943
DR   Wikidata; Q54929618
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Arg1441Cys (c.4321C>T); ClinVar=VCV000001938; Zygosity=Unspecified (NHCDR=ND32943).
CC   Donor information: At sampling donor was not affected with Parkinson disease but at risk for disease.
CC   Discontinued: Coriell; ND32943; 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)
SX   Female
AG   58Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 13
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