ID   CLF_PEDS0005_T1
AC   CVCL_C9B3
DR   dbGAP; phs001800.v1.p1
DR   GEO; GSM3039703
DR   Wikidata; Q123030936
RX   PubMed=30860482;
CC   Population: African American.
CC   Sequence variation: Gene fusion; HGNC; HGNC:28667; C1orf116 + HGNC; HGNC:11103; SMARCB1; Name(s)=SMARCB1-C1orf116; Note=SMARCB1 intron 1 fused to C1orf116 C-terminal (PubMed=30860482).
CC   Sequence variation: Gene deletion; HGNC; HGNC:11103; SMARCB1; Zygosity=Heterozygous (PubMed=30860482).
CC   Omics: Deep exome analysis.
CC   Omics: Transcriptome analysis by microarray.
CC   Derived from site: In situ; Kidney; UBERON=UBERON_0002113.
DI   NCIt; C7572; Kidney medullary carcinoma
DI   ORDO; Orphanet_319319; Renal medullary carcinoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C9B2 ! CLF_PEDS0005_N
OI   CVCL_C9B4 ! CLF_PEDS0005_T2A
OI   CVCL_C9B5 ! CLF_PEDS0005_T2B
CA   Cancer cell line
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=30860482; DOI=10.7554/eLife.44161; PMCID=PMC6436895;
RA   Hong A.L., Tseng Y.-Y., Wala J.A., Kim W.-J., Kynnap B.D., Doshi M.B.,
RA   Kugener G., Sandoval G.J., Howard T.P., Li J., Yang X.-P., Tillgren M.,
RA   Ghandi M., Sayeed A., Deasy R., Ward A., McSteen B., Labella K.M.,
RA   Keskula P., Tracy A., Connor C., Clinton C.M., Church A.J.,
RA   Crompton B.D., Janeway K.A., Van Hare B., Sandak D., Gjoerup O.V.,
RA   Bandopadhayay P., Clemons P.A., Schreiber S.L., Root D.E.,
RA   Gokhale P.C., Chi S.N., Mullen E.A., Roberts C.W.M., Kadoch C.,
RA   Beroukhim R., Ligon K.L., Boehm J.S., Hahn W.C.;
RT   "Renal medullary carcinomas depend upon SMARCB1 loss and are sensitive
RT   to proteasome inhibition.";
RL   eLife 8:e44161.1-e44161.32(2019).
//