ID   TC-244
AC   CVCL_4Z34
DR   Cosmic; 2228240
DR   Wikidata; Q54971803
RX   PubMed=25010205;
CC   Sequence variation: Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=25010205).
CC   Sequence variation: Gene fusion; HGNC; HGNC:3508; EWSR1 + HGNC; HGNC:3749; FLI1; Name(s)=EWSR1-FLI1, EWS-FLI1; Note=Type 1 fusion (Ex7/Ex6) (PubMed=25010205).
CC   Omics: Transcriptome analysis by RNAseq.
ST   Source(s): PubMed=25010205
ST   Amelogenin: X,Y
ST   CSF1PO: 11
ST   D13S317: 11
ST   D16S539: 9,10
ST   D18S51: 12,14
ST   D19S433: 15
ST   D21S11: 29,30
ST   D2S1338: 23,25
ST   D3S1358: 16,17
ST   D5S818: 11,12
ST   D7S820: 9,11
ST   D8S1179: 14,16
ST   FGA: 21,27
ST   TH01: 8,9
ST   TPOX: 11
ST   vWA: 18,19
DI   NCIt; C27291; Ewing sarcoma/peripheral primitive neuroectodermal tumor
DI   ORDO; Orphanet_223727; Bone sarcoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Cancer cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 9
//
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., Khan J.;
RT   "The genomic landscape of the Ewing sarcoma family of tumors reveals
RT   recurrent STAG2 mutation.";
RL   PLoS Genet. 10:E1004475-E1004475(2014).
//