ID   ND04841
AC   CVCL_CE95
DR   BioSample; SAMN00807375
DR   Coriell; ND04841
DR   Wikidata; Q54916163
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Gln34Arg (c.101A>G); ClinVar=VCV000468584; Zygosity=Unspecified (Coriell=ND04841).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198603; Parkinson disease 2, autosomal recessive juvenile
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_EY55 ! ND29968
SX   Male
AG   38Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 13
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