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Cellosaurus ND08917 (CVCL_CK56)

[Text version]
Cell line name ND08917
Accession CVCL_CK56
Resource Identification Initiative To cite this cell line use: ND08917 (RRID:CVCL_CK56)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (Coriell=ND08917).
  • Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Ala82Glu (c.245C>A); ClinVar=VCV000007038; Zygosity=Heterozygous (Coriell=ND08917).
  • Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex5-6del; Zygosity=Heterozygous (Coriell=ND08917).
Disease Parkinson disease 2, autosomal recessive juvenile (NCIt: C198603)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 51Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; ND08917
Biological sample resources BioSample; SAMN00795896
Encyclopedic resources Wikidata; Q54921732
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number16