ID   ND07278
AC   CVCL_Y810
DR   BioSample; SAMN00795318
DR   Coriell; ND07278
DR   Wikidata; Q54920761
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Asn52Metfs*29 (c.155delA) (255delA); ClinVar=VCV000536457; Zygosity=Heterozygous (Coriell=ND07278).
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex3-4del; Zygosity=Heterozygous (Coriell=ND07278).
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_Y811 ! ND29543
SX   Male
AG   44Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 16
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