ID   ND06284
AC   CVCL_CH67
DR   BioSample; SAMN00807969
DR   Coriell; ND06284
DR   Wikidata; Q54917292
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Arg42Pro (c.125G>C); ClinVar=VCV000644125; Zygosity=Heterozygous (from autologous cell line ND30171).
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex3del; Zygosity=Heterozygous (from autologous cell line ND30171).
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_DD47 ! ND30171
SX   Male
AG   48Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 15
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