ID   NH50289
AC   CVCL_YU01
DR   NHCDR; NH50289
DR   Wikidata; Q98127753
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Arg245Lys (c.734G>A); Zygosity=Heterozygous (NHCDR=NH50289).
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Gly430Asp (c.1289G>A); ClinVar=VCV000356016; Zygosity=Heterozygous (NHCDR=NH50289).
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   Male
AG   38Y
CA   Finite cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 9
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