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Cellosaurus ND40081 (CVCL_EZ57)

[Text version]
Cell line name ND40081
Accession CVCL_EZ57
Resource Identification Initiative To cite this cell line use: ND40081 (RRID:CVCL_EZ57)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1388; CACNA1A; Simple; p.Arg1345Ter (c.4033C>T) (p.Arg1346Ter, c.4036C>T) (R1346*); ClinVar=VCV000585570; Zygosity=Unspecified (NHCDR=ND40081).
Disease Parkinson's disease (NCIt: C26845)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 24Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; ND40081 - Discontinued
NHCDR; ND40081
Encyclopedic resources Wikidata; Q54930162
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number11