ID   Wilms2
AC   CVCL_A5SE
DR   CLS; 300413
DR   Wikidata; Q107117468
RX   PubMed=20106868;
RX   PubMed=24619359;
RX   PubMed=33379206;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2514; CTNNB1; Simple; p.Ser45Tyr (c.134C>A); ClinVar=VCV000375895; Zygosity=Heterozygous (PubMed=20106868; PubMed=33379206).
CC   Sequence variation: Mutation; HGNC; HGNC:12796; WT1; Simple; p.Arg362Ter (c.1084C>T) (p.Arg435Ter, c.1303C>T); ClinVar=VCV000003497; Zygosity=Homozygous (PubMed=20106868; PubMed=24619359; PubMed=33379206).
CC   Derived from site: In situ; Kidney; UBERON=UBERON_0002113.
ST   Source(s): CLS=300413; PubMed=33379206
ST   Amelogenin: X,Y
ST   CSF1PO: 11 (PubMed=33379206)
ST   CSF1PO: 11,12 (CLS=300413)
ST   D13S317: 9,11
ST   D16S539: 9
ST   D18S51: 12,17
ST   D21S11: 29,32.2
ST   D3S1358: 15
ST   D5S818: 11
ST   D7S820: 10,11
ST   D8S1179: 14,16
ST   FGA: 21
ST   Penta D: 10,12
ST   Penta E: 11,15
ST   TH01: 6
ST   TPOX: 8,11
ST   vWA: 15,19
DI   NCIt; C40407; Kidney Wilms tumor
DI   ORDO; Orphanet_654; Nephroblastoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y
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).
//