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Cellosaurus A375 XPA-mutated clone A3 (CVCL_C4RR)

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Cell line name A375 XPA-mutated clone A3
Accession CVCL_C4RR
Resource Identification Initiative To cite this cell line use: A375 XPA-mutated clone A3 (RRID:CVCL_C4RR)
Comments Population: Caucasian.
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).
  • Mutation; HGNC; HGNC:12814; XPA; Simple_edited; p.Ile69_Asp70delinsAsn (c.206_208delTTG); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36232946).
  • Mutation; HGNC; HGNC:12814; XPA; Simple_edited; p.Asp70Hisfs*31 (c.208_209delGA); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36232946).
Disease Amelanotic melanoma (NCIt: C3802)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0132 (A-375)
Sex of cell Female
Age at sampling 54Y
Category Cancer cell line
Publications

PubMed=36232946; DOI=10.3390/ijms231911649; PMCID=PMC9569948
Banicka V., Martens M.C., Panzer R., Schrama D., Emmert S., Boeckmann L., Thiem A.
Homozygous CRISPR/Cas9 knockout generated a novel functionally active Exon 1 skipping XPA variant in melanoma cells.
Int. J. Mol. Sci. 23:11649.1-11649.12(2022)

Cross-references
Encyclopedic resources Wikidata; Q116048457
Entry history
Entry creation15-Dec-2022
Last entry update19-Dec-2024
Version number5