ID   AS [Human rhabdoid tumor]
AC   CVCL_B3QE
DR   Cosmic; 802254
DR   Wikidata; Q110432581
RX   PubMed=9671307;
RX   PubMed=10397258;
CC   Sequence variation: Gene deletion; HGNC; HGNC:11103; SMARCB1; Zygosity=Heterozygous (PubMed=9671307).
CC   Derived from site: In situ; Abdomen; UBERON=UBERON_0000916.
DI   NCIt; C6586; Extrarenal rhabdoid tumor
DI   ORDO; Orphanet_69077; Rhabdoid tumor
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   7M
CA   Cancer cell line
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 5
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RX   PubMed=9671307; DOI=10.1038/28212;
RA   Versteege I., Sevenet N., Lange J., Rousseau-Merck M.-F., Ambros P.F.,
RA   Handgretinger R., Aurias A., Delattre O.;
RT   "Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.";
RL   Nature 394:203-206(1998).
//
RX   PubMed=10397258;
RA   Rousseau-Merck M.-F., Versteege I., Legrand I., Couturier J.,
RA   Mairal A., Delattre O., Aurias A.;
RT   "hSNF5/INI1 inactivation is mainly associated with homozygous
RT   deletions and mitotic recombinations in rhabdoid tumors.";
RL   Cancer Res. 59:3152-3156(1999).
//