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Cellosaurus GM28994 (CVCL_D6ZA)

[Text version]
Cell line name GM28994
Accession CVCL_D6ZA
Resource Identification Initiative To cite this cell line use: GM28994 (RRID:CVCL_D6ZA)
Comments Population: Caucasian; Spanish.
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.Ser435Ser (c.1359C>T); ClinVar=VCV001303896; Zygosity=Hemizygous (Coriell=GM28994).
Disease Choroideremia (NCIt: C34469)
Choroideremia (ORDO: Orphanet_180)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 43Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28994
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2