| Cell line name |
A375 XPA-mutated clone A3 |
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| Accession |
CVCL_C4RR |
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| Resource Identification Initiative |
To cite this cell line use: A375 XPA-mutated clone A3 (RRID:CVCL_C4RR) |
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| Comments |
Population: Caucasian.
Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511. |
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| Sequence variations |
- Mutation; HGNC; 1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Homozygous (from parent cell line).
- Mutation; HGNC; 1787; CDKN2A; Simple; p.Glu61Ter (c.181G>T) (p.Gly75Val, c.224G>T); ClinVar=VCV000376309; Zygosity=Homozygous (from parent cell line).
- Mutation; HGNC; 1787; CDKN2A; Simple; p.Glu69Ter (c.205G>T) (p.Gly83Val, c.248G>T); ClinVar=VCV000376308; Zygosity=Homozygous (from parent cell line).
- Mutation; HGNC; 11730; TERT; Simple; c.1-146C>T (c.250C>T) (C250T); Zygosity=Unspecified; Note=In promoter (from parent cell line).
- Mutation; HGNC; 12814; XPA; Simple_edited; p.Ile69_Asp70delinsAsn (c.206_208delTTG); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36232946).
- Mutation; HGNC; 12814; XPA; Simple_edited; p.Asp70Hisfs*31 (c.208_209delGA); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36232946).
|
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| Disease |
Amelanotic melanoma (NCIt: C3802) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Hierarchy |
Parent: CVCL_0132 (A-375) |
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| Sex of cell |
Female |
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| Age at sampling |
54Y |
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| Category |
Cancer cell line |
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| 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) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q116048457
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| Entry history |
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| Entry creation | 15-Dec-2022 |
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| Last entry update | 10-Sep-2024 |
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| Version number | 4 |
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