ID   Wilms5
AC   CVCL_A5SH
DR   Wikidata; Q107117472
RX   PubMed=20106868;
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.Arg433Profs*84 (c.1296_1299delGC); Zygosity=Homozygous; Note=Somatic (PubMed=20106868; PubMed=33379206).
CC   Donor information: The patient has a germline WT1 p.Arg390Ter (c.1168C>T) mutation that was lost in the tumor.
CC   Derived from site: In situ; Kidney; UBERON=UBERON_0002113.
ST   Source(s): PubMed=33379206
ST   Amelogenin: X,Y
ST   CSF1PO: 10,11
ST   D13S317: 11
ST   D16S539: 8,12
ST   D18S51: 12,16
ST   D21S11: 28,29
ST   D3S1358: 15,16
ST   D5S818: 10,13
ST   D7S820: 10
ST   D8S1179: 13,14
ST   FGA: 20,22
ST   Penta D: 11,13
ST   Penta E: 7,15
ST   TH01: 8
ST   TPOX: 9,10
ST   vWA: 17,18
DI   NCIt; C40407; Kidney Wilms tumor
DI   ORDO; Orphanet_654; Nephroblastoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Finite cell line
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
//
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=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).
//