| Cell line name |
A375-R1 |
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| Accession |
CVCL_A2CR |
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| Resource Identification Initiative |
To cite this cell line use: A375-R1 (RRID:CVCL_A2CR) |
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| Comments |
Population: Caucasian.
Selected for resistance to: ChEBI; CHEBI:63637; Vemurafenib (Zelboraf; PLX4032).
Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511. |
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| Sequence variations |
- Mutation; HGNC; 25657; BCORL1; Simple; p.Gln1076His (c.3228G>T); Zygosity=Heterozygous; Note=Acquired during resistance selection process (PubMed=29605720).
- Mutation; HGNC; 1097; BRAF; Simple; p.Val47_Asp380del (c.139_1140del1002); Zygosity=Heterozygous; Note=Acquired during resistance selection process (PubMed=29605720).
- Mutation; HGNC; 1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Heterozygous (PubMed=29605720).
- 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).
|
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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=29605720; DOI=10.1016/j.neo.2018.02.009; PMCID=PMC5915992
Mologni L., Costanza M., Sharma G.G., Viltadi M., Massimino L., Citterio S., Purgante S., Raman H., Pirola A., Zucchetti M., Piazza R., Gambacorti-Passerini C.
Concomitant BCORL1 and BRAF mutations in vemurafenib-resistant melanoma cells.
Neoplasia 20:467-477(2018) |
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| Cross-references |
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| Cell line databases/resources |
cancercelllines; CVCL_A2CR
|
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| Encyclopedic resources |
Wikidata; Q105506027
|
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| Polymorphism and mutation databases |
Cosmic; 2755761
|
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| Entry history |
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| Entry creation | 12-Jan-2021 |
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| Last entry update | 10-Sep-2024 |
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| Version number | 7 |
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