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Cellosaurus GM25421 (CVCL_EH27)

[Text version]
Cell line name GM25421
Accession CVCL_EH27
Resource Identification Initiative To cite this cell line use: GM25421 (RRID:CVCL_EH27)
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.Ser190Ter (c.569C>T); Zygosity=Hemizygous (Coriell=GM25421).
Disease Choroideremia (NCIt: C34469)
Choroideremia (ORDO: Orphanet_180)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_EH26 ! GM25420
Sex of cell Male
Age at sampling 48Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25421
Encyclopedic resources Wikidata; Q54853951
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number11