ID   Wilms1-2l
AC   CVCL_A5SC
SY   Wilms1
DR   CLS; 300411
DR   Wikidata; Q107117461
RX   PubMed=17551084;
RX   PubMed=20106868;
RX   PubMed=33379206;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2514; CTNNB1; Simple; p.Ser45Phe (c.134C>T); ClinVar=VCV000017588; Zygosity=Heterozygous (PubMed=20106868; PubMed=33379206).
CC   Sequence variation: Mutation; HGNC; HGNC:12796; WT1; Simple; p.Ser50Ter (c.149C>A); Zygosity=Homozygous (PubMed=20106868; PubMed=33379206).
CC   Donor information: Established from the left kidney of the recurrence (2nd tumor) of the patient.
CC   Derived from site: In situ; Kidney; UBERON=UBERON_0002113.
ST   Source(s): PubMed=33379206
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 11,13
ST   D16S539: 11,14
ST   D18S51: 15,18
ST   D21S11: 30,31
ST   D3S1358: 14,17
ST   D5S818: 12,13
ST   D7S820: 9,14
ST   D8S1179: 12,14
ST   FGA: 22,25
ST   Penta D: 13
ST   Penta E: 5,14
ST   TH01: 9.3
ST   TPOX: 8,9
ST   vWA: 14,19
DI   NCIt; C40407; Kidney Wilms tumor
DI   ORDO; Orphanet_654; Nephroblastoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A5SD ! Wilms1-2r
SX   Female
AG   2Y
CA   Finite cell line
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 7
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RX   PubMed=17551084; DOI=10.1136/jmg.2006.047530; PMCID=PMC2740887;
RA   Duhme C., Perez N., de Torres C., Busch M.A., Mora J., Royer-Pokora B.;
RT   "Different CTNNB1 mutations as molecular genetic proof for the
RT   independent origin of four Wilms tumours in a patient with a novel
RT   germ line WT1 mutation.";
RL   J. Med. Genet. 44:393-396(2007).
//
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).
//