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Cellosaurus KCMC-2060 (CVCL_A9J6)

[Text version]
Cell line name KCMC-2060
Accession CVCL_A9J6
Resource Identification Initiative To cite this cell line use: KCMC-2060 (RRID:CVCL_A9J6)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4235; GFAP; Simple; p.Arg239Cys (c.729C>T); ClinVar=VCV000016167; Zygosity=Unspecified (JCRB=NIHS1042).
Disease Alexander disease (NCIt: C84545)
Alexander disease (ORDO: Orphanet_58)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 39Y
Category Finite cell line
Cross-references
Cell line collections (Providers) JCRB; NIHS1042 - Discontinued
Encyclopedic resources Wikidata; Q102114413
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number7