ID   A375 XPA-mutated clone A9
AC   CVCL_C4RS
DR   Wikidata; Q116048458
RX   PubMed=36232946;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 1787; CDKN2A; Simple; p.Glu61Ter (c.181G>T) (p.Gly75Val, c.224G>T); ClinVar=VCV000376309; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 1787; CDKN2A; Simple; p.Glu69Ter (c.205G>T) (p.Gly83Val, c.248G>T); ClinVar=VCV000376308; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 11730; TERT; Simple; c.1-146C>T (c.250C>T) (C250T); Zygosity=Unspecified; Note=In promoter (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple_edited; p.Ala7Leufs*8 (c.19delG); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36232946).
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple_edited; p.Ala7Glyfs*55 (c.19_20insG); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36232946).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
DI   NCIt; C3802; Amelanotic melanoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_0132 ! A-375
SX   Female
AG   54Y
CA   Cancer cell line
DT   Created: 15-12-22; Last updated: 29-06-23; Version: 3
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RX   PubMed=36232946; DOI=10.3390/ijms231911649;
RA   Banicka V., Martens M.C., Panzer R., Schrama D., Emmert S.,
RA   Boeckmann L., Thiem A.;
RT   "Homozygous CRISPR/Cas9 knockout generated a novel functionally active
RT   Exon 1 skipping XPA variant in melanoma cells.";
RL   Int. J. Mol. Sci. 23:11649.1-11649.12(2022).
//