ID   SCCRDEB4
AC   CVCL_G305
SY   SCCRDEB 4
DR   cancercelllines; CVCL_G305
DR   Cosmic; 1608867
DR   Cosmic; 2688672
DR   Wikidata; Q54952394
RX   PubMed=21602893;
RX   PubMed=22006338;
RX   PubMed=24662767;
RX   PubMed=29755650;
CC   Sequence variation: Mutation; HGNC; HGNC:1787; CDKN2A; Simple; p.Arg80Ter (c.238C>T) (p.Pro94Leu, c.281C>T); ClinVar=VCV000009409; Zygosity=Unspecified (PubMed=24662767).
CC   Sequence variation: Mutation; HGNC; HGNC:2214; COL7A1; Simple; p.Gly2749fs (c.8244insC); Zygosity=Homozygous (PubMed=21602893).
CC   Sequence variation: Mutation; HGNC; HGNC:7881; NOTCH1; Simple; p.Asp1517Asn (c.4549G>A); ClinVar=VCV000523598; Zygosity=Unspecified (PubMed=24662767).
CC   Sequence variation: Mutation; HGNC; HGNC:7881; NOTCH1; Simple; p.Leu1797Pro (c.5390T>C); Zygosity=Unspecified (PubMed=24662767).
CC   Sequence variation: Mutation; HGNC; HGNC:7882; NOTCH2; Simple; p.Arg113Ter (c.337C>T); Zygosity=Unspecified (PubMed=24662767).
CC   Sequence variation: Mutation; HGNC; HGNC:11998; TP53; Simple; p.Gln136Ter (c.406C>T); ClinVar=VCV001802458; Zygosity=Unspecified (PubMed=24662767).
CC   Sequence variation: Mutation; HGNC; HGNC:11998; TP53; Simple; p.Pro152Leu (c.455C>T); ClinVar=VCV000142766; Zygosity=Unspecified (PubMed=21602893).
DI   NCIt; C84691; Epidermolysis bullosa dystrophica
DI   NCIt; C4819; Skin squamous cell carcinoma
DI   ORDO; Orphanet_303; Dystrophic epidermolysis bullosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   32Y
CA   Cancer cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 18
//
RX   PubMed=21602893; DOI=10.1038/onc.2011.180; PMCID=PMC3219832;
RA   Watt S.A., Pourreyron C., Purdie K.J., Hogan C., Killick-Cole C.L.,
RA   Foster N., Pratt N., Bourdon J.-C., Appleyard M.V.C.L., Murray K.,
RA   Thompson A.M., Mao X., Mein C.A., Bruckner-Tuderman L.K., Evans A.T.,
RA   McGrath J.A., Proby C.M., Foerster J., Leigh I.M., South A.P.;
RT   "Integrative mRNA profiling comparing cultured primary cells with
RT   clinical samples reveals PLK1 and C20orf20 as therapeutic targets in
RT   cutaneous squamous cell carcinoma.";
RL   Oncogene 30:4666-4677(2011).
//
RX   PubMed=22006338; DOI=10.1073/pnas.1114669108; PMCID=PMC3203814;
RA   Wang N.J., Sanborn Z., Arnett K.L., Bayston L.J., Liao W., Proby C.M.,
RA   Leigh I.M., Collisson E.A., Gordon P.B., Jakkula L.R., Pennypacker S.,
RA   Zou Y., Sharma M., North J.P., Vemula S.S., Mauro T.M., Neuhaus I.M.,
RA   LeBoit P.E., Hur J.S., Park K., Huh N., Kwok P.-Y., Arron S.T.,
RA   Massion P.P., Bale A.E., Haussler D., Cleaver J.E., Gray J.W.,
RA   Spellman P.T., South A.P., Aster J.C., Blacklow S.C., Cho R.J.;
RT   "Loss-of-function mutations in Notch receptors in cutaneous and lung
RT   squamous cell carcinoma.";
RL   Proc. Natl. Acad. Sci. U.S.A. 108:17761-17766(2011).
//
RX   PubMed=24662767; DOI=10.1038/jid.2014.154; PMCID=PMC4753672;
RA   South A.P., Purdie K.J., Watt S.A., Haldenby S., den Breems N.Y.,
RA   Dimon M., Arron S.T., Kluk M.J., Aster J.C., McHugh A., Xue D.J.,
RA   Dayal J.H.S., Robinson K.S., Rizvi S.M.H., Proby C.M., Harwood C.A.,
RA   Leigh I.M.;
RT   "NOTCH1 mutations occur early during cutaneous squamous cell
RT   carcinogenesis.";
RL   J. Invest. Dermatol. 134:2630-2638(2014).
//
RX   PubMed=29755650; DOI=10.18632/oncotarget.24750; PMCID=PMC5945540;
RA   McHugh A., Fernandes K., South A.P., Mellerio J.E., Salas-Alanis J.C.,
RA   Proby C.M., Leigh I.M., Saville M.K.;
RT   "Preclinical comparison of proteasome and ubiquitin E1 enzyme
RT   inhibitors in cutaneous squamous cell carcinoma: the identification of
RT   mechanisms of differential sensitivity.";
RL   Oncotarget 9:20265-20281(2018).
//