ID   ND08917
AC   CVCL_CK56
DR   BioSample; SAMN00795896
DR   Coriell; ND08917
DR   Wikidata; Q54921732
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (Coriell=ND08917).
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Ala82Glu (c.245C>A); ClinVar=VCV000007038; Zygosity=Heterozygous (Coriell=ND08917).
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex5-6del; Zygosity=Heterozygous (Coriell=ND08917).
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)
SX   Male
AG   51Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 16
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