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Cellosaurus ND41010 (CVCL_EZ68)

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Cell line name ND41010
Accession CVCL_EZ68
Resource Identification Initiative To cite this cell line use: ND41010 (RRID:CVCL_EZ68)
Comments Population: Asian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:14581; PINK1; Simple; p.Arg246Ter (c.736C>T); ClinVar=VCV000002407; Zygosity=Homozygous (NHCDR=ND41010).
  • Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex4-6del; Zygosity=Heterozygous (NHCDR=ND41010).
Disease Parkinson disease 6, early onset (NCIt: C184990)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 58Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; ND41010 - Discontinued
NHCDR; ND41010
Encyclopedic resources Wikidata; Q54930189
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number13