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Cellosaurus GM25393 (CVCL_BW56)

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Cell line name GM25393
Accession CVCL_BW56
Resource Identification Initiative To cite this cell line use: GM25393 (RRID:CVCL_BW56)
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:1940; CHM; Simple; c.189+1G>T (IVS3+1G>T); ClinVar=VCV002780474; Zygosity=Hemizygous; Note=Splice donor mutation (Coriell=GM25393).
Disease Choroideremia (NCIt: C34469)
Choroideremia (ORDO: Orphanet_180)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_VI87 (GM26650)
Originate from same individual CVCL_BW55 ! GM25392
Sex of cell Male
Age at sampling 57Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25393
Encyclopedic resources Wikidata; Q54853922
Entry history
Entry creation02-May-2016
Last entry update27-Nov-2025
Version number13