ID   6647
AC   CVCL_H722
SY   #6647
DR   cancercelllines; CVCL_H722
DR   Cosmic; 1078384
DR   Cosmic; 1082508
DR   Cosmic; 1718435
DR   Cosmic; 2228212
DR   Wikidata; Q53996682
RX   PubMed=327080;
RX   PubMed=3004699;
RX   PubMed=3390826;
RX   PubMed=8040301;
RX   PubMed=8617485;
RX   PubMed=11891184;
RX   PubMed=18160777;
RX   PubMed=22142829;
RX   PubMed=25010205;
RX   PubMed=26428435;
CC   Sequence variation: Gene fusion; HGNC; HGNC:3508; EWSR1 + HGNC; HGNC:3749; FLI1; Name(s)=EWSR1-FLI1, EWS-FLI1; Note=Type 2 fusion (Ex7/Ex5) (PubMed=8040301; PubMed=11891184; PubMed=25010205).
CC   Sequence variation: Mutation; HGNC; HGNC:11998; TP53; Simple; p.Ser241Phe (c.722C>T); ClinVar=VCV000012359; Zygosity=Unspecified (PubMed=25010205).
CC   Omics: Transcriptomics; RNAseq.
CC   Omics: Variations; Array-based CGH.
CC   Derived from site: Metastatic; Pleural effusion; UBERON=UBERON_0000175.
ST   Source(s): PubMed=25010205
ST   Amelogenin: X
ST   CSF1PO: 11,13
ST   D13S317: 8
ST   D16S539: 10,12
ST   D18S51: 13,19
ST   D19S433: 14,14.2
ST   D21S11: 29,30
ST   D2S1338: 17,25
ST   D3S1358: 15,17
ST   D5S818: 11,13
ST   D7S820: 8,10
ST   D8S1179: 10,13
ST   FGA: 22,24
ST   TH01: 9,9.3
ST   TPOX: 8,9
ST   vWA: 14,18
DI   NCIt; C4817; Ewing sarcoma
DI   ORDO; Orphanet_319; Ewing sarcoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   14Y
CA   Cancer cell line
DT   Created: 11-02-13; Last updated: 10-04-25; Version: 27
//
RX   PubMed=327080; DOI=10.1093/jnci/59.1.221;
RA   Fogh J., Fogh J.M., Orfeo T.;
RT   "One hundred and twenty-seven cultured human tumor cell lines
RT   producing tumors in nude mice.";
RL   J. Natl. Cancer Inst. 59:221-226(1977).
//
RX   PubMed=3004699; DOI=10.1016/0165-4608(86)90001-4;
RA   Whang-Peng J., Triche T.J., Knutsen T., Miser J.S., Kao-Shan C.-S.,
RA   Tsai S., Israel M.A.;
RT   "Cytogenetic characterization of selected small round cell tumors of
RT   childhood.";
RL   Cancer Genet. Cytogenet. 21:185-208(1986).
//
RX   PubMed=3390826;
RA   McKeon C., Thiele C.J., Ross R.A., Kwan M., Triche T.J., Miser J.S.,
RA   Israel M.A.;
RT   "Indistinguishable patterns of protooncogene expression in two
RT   distinct but closely related tumors: Ewing's sarcoma and
RT   neuroepithelioma.";
RL   Cancer Res. 48:4307-4311(1988).
//
RX   PubMed=8040301; DOI=10.1172/JCI117360; PMCID=PMC295111;
RA   Giovannini M., Biegel J.A., Serra M., Wang J.-Y., Wei Y.-L.H.,
RA   Nycum L.M., Emanuel B.S., Evans G.A.;
RT   "EWS-erg and EWS-Fli1 fusion transcripts in Ewing's sarcoma and
RT   primitive neuroectodermal tumors with variant translocations.";
RL   J. Clin. Invest. 94:489-496(1994).
//
RX   PubMed=8617485; DOI=10.1016/S0046-8177(96)90115-X;
RA   Scotlandi K., Serra M., Manara M.C., Benini S., Sarti M., Maurici D.,
RA   Lollini P.-L., Picci P., Bertoni F., Baldini N.;
RT   "Immunostaining of the p30/32MIC2 antigen and molecular detection of
RT   EWS rearrangements for the diagnosis of Ewing's sarcoma and peripheral
RT   neuroectodermal tumor.";
RL   Hum. Pathol. 27:408-416(1996).
//
RX   PubMed=11891184; DOI=10.1016/S0002-9440(10)64908-5; PMCID=PMC1867180;
RA   Manara M.C., Perbal B., Benini S., Strammiello R., Cerisano V.,
RA   Perdichizzi S., Serra M., Astolfi A., Bertoni F., Alami J., Yeger H.,
RA   Picci P., Scotlandi K.;
RT   "The expression of ccn3(nov) gene in musculoskeletal tumors.";
RL   Am. J. Pathol. 160:849-859(2002).
//
RX   PubMed=18160777; DOI=10.1159/000109614;
RA   Savola S., Nardi F., Scotlandi K., Picci P., Knuutila S.;
RT   "Microdeletions in 9p21.3 induce false negative results in CDKN2A FISH
RT   analysis of Ewing sarcoma.";
RL   Cytogenet. Genome Res. 119:21-26(2007).
//
RX   PubMed=22142829; DOI=10.1158/1078-0432.CCR-11-2056; PMCID=PMC3271129;
RA   Shukla N., Ameur N., Yilmaz I., Nafa K., Lau C.-Y., Marchetti A.,
RA   Borsu L., Barr F.G., Ladanyi M.;
RT   "Oncogene mutation profiling of pediatric solid tumors reveals
RT   significant subsets of embryonal rhabdomyosarcoma and neuroblastoma
RT   with mutated genes in growth signaling pathways.";
RL   Clin. Cancer Res. 18:748-757(2012).
//
RX   PubMed=25010205; DOI=10.1371/journal.pgen.1004475; PMCID=PMC4091782;
RA   Brohl A.S., Solomon D.A., Chang W., Wang J.-J., Song Y., Sindiri S.,
RA   Patidar R., Hurd L., Chen L., Shern J.F., Liao H.-L., Wen X.-Y.,
RA   Gerard J., Kim J.-S., Lopez Guerrero J.A., Machado I., Wai D.H.,
RA   Picci P., Triche T.J., Horvai A.E., Miettinen M.M., Wei J.S.,
RA   Catchpoole D., Llombart-Bosch A., Waldman T.A., Khan J.;
RT   "The genomic landscape of the Ewing sarcoma family of tumors reveals
RT   recurrent STAG2 mutation.";
RL   PLoS Genet. 10:e1004475.1-e1004475.13(2014).
//
RX   PubMed=26428435; DOI=10.1016/j.ejca.2015.08.020;
RA   Sand L.G.L., Scotlandi K., Berghuis D., Snaar-Jagalska B.E., Picci P.,
RA   Schmidt T., Szuhai K., Hogendoorn P.C.W.;
RT   "CXCL14, CXCR7 expression and CXCR4 splice variant ratio associate
RT   with survival and metastases in Ewing sarcoma patients.";
RL   Eur. J. Cancer 51:2624-2633(2015).
//