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Cellosaurus ND40078 (CVCL_EZ54)

[Text version]
Cell line name ND40078
Accession CVCL_EZ54
Resource Identification Initiative To cite this cell line use: ND40078 (RRID:CVCL_EZ54)
Comments Population: Caucasian; Swedish.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Arg275Gln (c.824G>A); ClinVar=VCV000931482; Zygosity=Heterozygous (NHCDR=ND40078).
  • Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Arg275Trp (c.823C>T); ClinVar=VCV000007050; Zygosity=Heterozygous (NHCDR=ND40078).
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 Female
Age at sampling 51Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; ND40078 - Discontinued
NHCDR; ND40078
Encyclopedic resources Wikidata; Q54930159
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number14