Cellosaurus cell line (CVCL

Cellosaurus (CVCL_J004)

Comments

Population: Caucasian.
Omics: Variations; SNP array analysis.
Miscellaneous: Not sure what is the relationship between A375.S2 and A375S1.
Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511.

Sequence variations

Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Homozygous (from parent cell line).
Mutation; HGNC; HGNC:1787; CDKN2A; Simple; p.Glu61Ter (c.181G>T) (p.Gly75Val, c.224G>T); ClinVar=VCV000376309; Zygosity=Homozygous (from parent cell line).
Mutation; HGNC; HGNC:1787; CDKN2A; Simple; p.Glu69Ter (c.205G>T) (p.Gly83Val, c.248G>T); ClinVar=VCV000376308; Zygosity=Homozygous (from parent cell line).
Mutation; HGNC; HGNC:11730; TERT; Simple; c.1-146C>T (c.250C>T) (C250T); Zygosity=Unspecified; Note=In promoter (from parent cell line).

Disease

Amelanotic melanoma (NCIt: C3802)

Species of origin

Mus musculus (Mouse) (NCBI Taxonomy: 9606)

Hierarchy

Parent: CVCL_0132 (A-375)

Sex of cell

Female

Age at sampling

54Y