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Cellosaurus GM25386 (CVCL_BW54)

[Text version]
Cell line name GM25386
Accession CVCL_BW54
Resource Identification Initiative To cite this cell line use: GM25386 (RRID:CVCL_BW54)
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=GM25386).
Disease Choroideremia (NCIt: C34469)
Choroideremia (ORDO: Orphanet_180)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_BW53 ! GM25385
Sex of cell Male
Age at sampling 61Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25386
Encyclopedic resources Wikidata; Q54853917
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number13