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Cellosaurus ND06284 (CVCL_CH67)

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Cell line name ND06284
Accession CVCL_CH67
Resource Identification Initiative To cite this cell line use: ND06284 (RRID:CVCL_CH67)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Arg42Pro (c.125G>C); ClinVar=VCV000644125; Zygosity=Heterozygous (from autologous cell line ND30171).
  • Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex3del; Zygosity=Heterozygous (from autologous cell line ND30171).
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)
Originate from same individual CVCL_DD47 ! ND30171
Sex of cell Male
Age at sampling 48Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; ND06284
Biological sample resources BioSample; SAMN00807969
Encyclopedic resources Wikidata; Q54917292
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number15