ID   KTCTL-53
AC   CVCL_5882
SY   KTCTL53; KTCTL 53; RCC-KP
DR   CLS; 300254
DR   Cosmic; 972925
DR   Wikidata; Q54900650
RX   PubMed=7915601;
RX   PubMed=8086765;
RX   PubMed=11929824;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12687; VHL; Simple; p.Val84Profs*73 (c.250_256del); Zygosity=Unspecified (PubMed=7915601).
CC   Misspelling: KTCL53; Cosmic=972925; PubMed=7915601.
CC   Derived from site: In situ; Kidney; UBERON=UBERON_0002113.
ST   Source(s): CLS=300254
ST   Amelogenin: X,Y
ST   CSF1PO: 9,10
ST   D13S317: 11,12
ST   D16S539: 9,12
ST   D18S51: 13,14
ST   D21S11: 30
ST   D3S1358: 16
ST   D5S818: 12,13
ST   D7S820: 12
ST   D8S1179: 10,14
ST   FGA: 20,21
ST   Penta D: 9,12
ST   Penta E: 7,14
ST   TH01: 7,9.3
ST   TPOX: 8
ST   vWA: 17,18
DI   NCIt; C4033; Clear cell renal cell carcinoma
DI   ORDO; Orphanet_319276; Clear cell renal carcinoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   59Y
CA   Cancer cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 21
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RX   PubMed=7915601; DOI=10.1038/ng0594-85;
RA   Gnarra J.R., Tory K., Weng Y.-K., Schmidt L.S., Wei M.H., Li H., Latif F.,
RA   Liu S., Chen F., Duh F.-M., Lubensky I.A., Duan D.-S.R., Florence C.,
RA   Pozzatti R., Walther M.M., Bander N.H., Grossman H.B., Brauch H.,
RA   Pomer S., Brooks J.D., Isaacs W.B., Lerman M.I., Zbar B.,
RA   Linehan W.M.;
RT   "Mutations of the VHL tumour suppressor gene in renal carcinoma.";
RL   Nat. Genet. 7:85-90(1994).
//
RX   PubMed=8086765; DOI=10.1007/BF00252823;
RA   Gross A.J., Wolff M., Fandrey J., Miersch W.-D.E., Dieckmann K.-P.,
RA   Jelkmann W.;
RT   "Prevalence of paraneoplastic erythropoietin production by renal cell
RT   carcinomas.";
RL   Clin. Investig. 72:337-340(1994).
//
RX   PubMed=11929824;
RA   Batrla R., Linnebacher M., Rudy W., Stumm S., Wallwiener D.,
RA   Guckel B.;
RT   "CD40-expressing carcinoma cells induce down-regulation of CD40 ligand
RT   (CD154) and impair T-cell functions.";
RL   Cancer Res. 62:2052-2057(2002).
//