Cellosaurus logo
expasy logo

Cellosaurus (CVCL_1T44)

[Text][XML][JSON]
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10585; SCN1A; Simple; p.Gly1410Trp (c.4261G>T); Zygosity=Heterozygous (PubMed=29295803).
Disease Developmental and epileptic encephalopathy 6A (NCIt: C147071)
Dravet syndrome (ORDO: Orphanet_33069)
Species of origin Gallus gallus (Chicken) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7