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Cellosaurus GM28217 (CVCL_D3AC)

[Text version]
Cell line name GM28217
Accession CVCL_D3AC
Resource Identification Initiative To cite this cell line use: GM28217 (RRID:CVCL_D3AC)
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:10597; SCN9A; Simple; p.Ala1643Glu (c.4928C>A) (p.Ala1632Glu, c.4895C>A); ClinVar=VCV000245903; Zygosity=Heterozygous (Coriell=GM28217).
Disease Paroxysmal extreme pain disorder (NCIt: C125385)
Paroxysmal extreme pain disorder (ORDO: Orphanet_46348)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 23Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28217
Encyclopedic resources Wikidata; Q127380912
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3