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Cellosaurus GM25383 (CVCL_BW52)

[Text version]
Cell line name GM25383
Accession CVCL_BW52
Resource Identification Initiative To cite this cell line use: GM25383 (RRID:CVCL_BW52)
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; p.Arg270Ter (c.808C>T); ClinVar=VCV000143078; Zygosity=Hemizygous (Coriell=GM25383).
Disease Choroideremia (NCIt: C34469)
Choroideremia (ORDO: Orphanet_180)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_A1VZ (CRFi001-A)CVCL_RT98 (GM26663)
Originate from same individual CVCL_BW51 ! GM25382
Sex of cell Male
Age at sampling 20Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25383
Encyclopedic resources Wikidata; Q54853914
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number13