ID   GM28217
AC   CVCL_D3AC
DR   Coriell; GM28217
DR   Wikidata; Q127380912
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10597; SCN9A; Simple; p.Ala1643Glu (c.4928C>A) (p.Ala1632Glu, c.4895C>A); ClinVar=VCV000245903; Zygosity=Heterozygous (Coriell=GM28217).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C125385; Paroxysmal extreme pain disorder
DI   ORDO; Orphanet_46348; Paroxysmal extreme pain disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   23Y
CA   Finite cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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