ID   TC-253
AC   CVCL_7150
DR   cancercelllines; CVCL_7150
DR   Cosmic; 1091070
DR   Cosmic; 2228243
DR   Wikidata; Q54971808
RX   PubMed=7882340;
RX   PubMed=25010205;
CC   Sequence variation: Gene fusion; HGNC; HGNC:3508; EWSR1 + HGNC; HGNC:3749; FLI1; Name(s)=EWSR1-FLI1, EWS-FLI1; Note=Type 3 fusion (Ex10/Ex6) (PubMed=25010205).
CC   Sequence variation: Mutation; HGNC; HGNC:11355; STAG2; Simple; p.Asn842fs; Zygosity=Unspecified (PubMed=25010205).
CC   Sequence variation: Mutation; HGNC; HGNC:11998; TP53; Simple; p.Arg273Cys (c.817C>T); ClinVar=VCV000043594; Zygosity=Unspecified (PubMed=25010205).
CC   Omics: Transcriptomics; RNAseq.
ST   Source(s): PubMed=25010205
ST   Amelogenin: X
ST   CSF1PO: 11,13
ST   D13S317: 8,10
ST   D16S539: 12
ST   D18S51: 13,18
ST   D19S433: 13
ST   D21S11: 29
ST   D2S1338: 17,20
ST   D3S1358: 16,17
ST   D5S818: 11,12
ST   D7S820: 11
ST   D8S1179: 13,14
ST   FGA: 24
ST   TH01: 7,8
ST   TPOX: 8,10
ST   vWA: 18,19
DI   NCIt; C3749; Alveolar rhabdomyosarcoma
DI   ORDO; Orphanet_99756; Alveolar rhabdomyosarcoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   25Y
CA   Cancer cell line
DT   Created: 04-04-12; Last updated: 10-04-25; Version: 21
//
RX   PubMed=7882340;
RA   Sorensen P.H.B., Shimada H., Liu X.F., Lim J.F., Thomas G.,
RA   Triche T.J.;
RT   "Biphenotypic sarcomas with myogenic and neural differentiation
RT   express the Ewing's sarcoma EWS/FLI1 fusion gene.";
RL   Cancer Res. 55:1385-1392(1995).
//
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).
//