ID   ND40080
AC   CVCL_EZ56
DR   Coriell; ND40080
DR   NHCDR; ND40080
DR   Wikidata; Q54930161
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2711; DCTN1; Simple; p.Gly71Arg (c.211G>A); ClinVar=VCV000008406; Zygosity=Unspecified (NHCDR=ND40080).
CC   Discontinued: Coriell; ND40080; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C26845; Parkinson disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   57Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 10-04-25; Version: 12
//