ID   ND40078
AC   CVCL_EZ54
DR   Coriell; ND40078
DR   NHCDR; ND40078
DR   Wikidata; Q54930159
CC   Population: Caucasian; Swedish.
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Arg275Gln (c.824G>A); ClinVar=VCV000931482; Zygosity=Heterozygous (NHCDR=ND40078).
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Arg275Trp (c.823C>T); ClinVar=VCV000007050; Zygosity=Heterozygous (NHCDR=ND40078).
CC   Discontinued: Coriell; ND40078; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198603; Parkinson disease 2, autosomal recessive juvenile
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   51Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 14
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