ID   CLF_PEDS9001_T1
AC   CVCL_C9B6
SY   CLF_PEDS9001_T
DR   dbGAP; phs001800.v1.p1
DR   GEO; GSM3687425
DR   Wikidata; Q123030940
RX   PubMed=30860482;
CC   Population: African American.
CC   Sequence variation: Gene fusion; HGNC; HGNC:30036; PLEKHA5 + HGNC; HGNC:11103; SMARCB1; Name(s)=SMARCB1-PLEKHA5; Note=SMARCB1 intron 6 fused to PLEKHA5 intron 10 (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)
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).
//