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Cellosaurus GM25400 (CVCL_EH25)

[Text version]
Cell line name GM25400
Accession CVCL_EH25
Resource Identification Initiative To cite this cell line use: GM25400 (RRID:CVCL_EH25)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1940; CHM; Simple; p.Arg270Ter (c.808C>T); ClinVar=VCV000143078; Zygosity=Hemizygous (Coriell=GM25400).
Disease Choroideremia (NCIt: C34469)
Choroideremia (ORDO: Orphanet_180)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_EH24 ! GM25399
Sex of cell Male
Age at sampling 59Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25400
Encyclopedic resources Wikidata; Q54853928
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number13