ID   Wilms3
AC   CVCL_A5SF
DR   CLS; 300414
DR   Wikidata; Q107117469
RX   PubMed=20106868;
RX   PubMed=24619359;
RX   PubMed=33379206;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2514; CTNNB1; None_reported; -; Zygosity=- (PubMed=20106868; PubMed=33379206).
CC   Sequence variation: Mutation; HGNC; HGNC:12796; WT1; Simple; p.Val432Serfs*87 (c.1293_1294insA); Zygosity=Homozygous; Note=Somatic (PubMed=20106868; PubMed=24619359; PubMed=33379206).
CC   Derived from site: In situ; Kidney; UBERON=UBERON_0002113.
ST   Source(s): CLS=300414; PubMed=33379206
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D13S317: 12,13
ST   D16S539: 9,11
ST   D18S51: 13,17
ST   D21S11: 29,31
ST   D3S1358: 15,16
ST   D5S818: 9
ST   D7S820: 10,11
ST   D8S1179: 10,11
ST   FGA: 22,24
ST   Penta D: 9,13
ST   Penta E: 7,10
ST   TH01: 6
ST   TPOX: 8
ST   vWA: 16,17
DI   NCIt; C40407; Kidney Wilms tumor
DI   ORDO; Orphanet_654; Nephroblastoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11-12M
CA   Finite cell line
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 7
//
RX   PubMed=20106868; DOI=10.1093/hmg/ddq042;
RA   Royer-Pokora B., Busch M.A., Beier M., Duhme C., de Torres C., Mora J.,
RA   Brandt A., Royer H.-D.;
RT   "Wilms tumor cells with WT1 mutations have characteristic features of
RT   mesenchymal stem cells and express molecular markers of paraxial
RT   mesoderm.";
RL   Hum. Mol. Genet. 19:1651-1668(2010).
//
RX   PubMed=24619359; DOI=10.1093/hmg/ddu111; PMCID=PMC4082364;
RA   Busch M.A., Schwindt H., Brandt A., Beier M., Gorldt N., Romaniuk P.,
RA   Toska E., Roberts S., Royer H.-D., Royer-Pokora B.;
RT   "Classification of a frameshift/extended and a stop mutation in WT1 as
RT   gain-of-function mutations that activate cell cycle genes and promote
RT   Wilms tumour cell proliferation.";
RL   Hum. Mol. Genet. 23:3958-3974(2014).
//
RX   PubMed=33379206; DOI=10.3390/cancers13010060; PMCID=PMC7801943;
RA   Royer-Pokora B., Busch M.A., Tenbusch S., Schmidt M., Beier M.,
RA   Woods A.D., Thiele H., Mora J.;
RT   "Comprehensive biology and genetics compendium of Wilms tumor cell
RT   lines with different WT1 mutations.";
RL   Cancers (Basel) 13:60.1-60.21(2021).
//