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Cellosaurus ND40067 (CVCL_EZ45)

[Text version]
Cell line name ND40067
Accession CVCL_EZ45
Resource Identification Initiative To cite this cell line use: ND40067 (RRID:CVCL_EZ45)
Comments Population: Caucasian; Polish.
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; c.203_204delAG; Zygosity=Heterozygous (NHCDR=ND40067).
  • Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex4-7del; Zygosity=Heterozygous (NHCDR=ND40067).
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 44Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; ND40067 - Discontinued
NHCDR; ND40067
Encyclopedic resources Wikidata; Q54930148
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number13