GM05518
LCL from B-Lymphocyte
Description:
WILMS TUMOR 1; WT1
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Heritable Cancer Syndromes and other Cancers |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX,der(9)t(9;11)(p22;p13),del(11)(p11.1).ish der(9)t(9;11)(D11S2071+,305J7-T7+,CEP9+),del(11)(p11.1)(D11S2071-, D11S4974+).arr 11p15.1p11.12(20206582-50028103)x1,11p11.12(50087307-50258808)x1
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 11 |
Gessler et al (Am J Hum Genet 44:486-495,1989) utilized 37 DNA probes which map to the WAGR region of chromosome 11 to define the WAGR gene loci and provide a high resolution map of this region. DNA from this cell culture showed reduced dosage, indicative of a heterozygous deletion, for at least some of the probes tested. |
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| Cytogenetics |
Chromosome 11: DELETION Aneuploid Segment (-)11p13>11p11 |
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Chromosome 11: DELETION Aneuploid Segment (-)11p15.1>11p11.12 |
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Chromosome 11: DERIVATIVE CHROMOSOME Aneuploid Segment (-)11p13>11p11 |
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Chromosome 9: DERIVATIVE CHROMOSOME Aneuploid Segment (-)9pter>9p22 |
| Remarks |
Aniridia-Wilms tumor; ment retardation; failure to thrive; sporadic; no fam hist for Aniridia-Wilms; 50% of RBC catalase act; nor RBC LDH-A act; nor fibro Hb epsilon DNA genes; 46,XX,-9,+der(9)(9qter> 9p22::11p13>11pter),del(11)(qter>p11.1:) |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Gessler M, Hameister H, Henry I, Junien C, Braun T, Arnold HH, The human MyoD1 (MYF3) gene maps on the short arm of chromosome 11 but is not associated with the WAGR locus or the region for the Beckwith- Wiedemann syndrome. Hum Genet86:135-8 1990 |
| PubMed ID: 2176177 |
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| Gessler M, Thomas GH, Couillin P, Junien C, McGillivray BC, Hayden M, Jaschek G, Bruns GA, A deletion map of the WAGR region on chromosome 11. Am J Hum Genet44:486-95 1989 |
| PubMed ID: 2539014 |
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| de Martinville B, Francke U, The c-Ha-ras1, insulin and beta-globin loci map outside the deletion associated with aniridia-Wilms' tumour. Nature305:641-3 1983 |
| PubMed ID: 6312329 |
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| Ferrell RE, Riccardi VM, Catalase levels in patients with aniridia and/or Wilms' tumor: utility and limitations. Cytogenet Cell Genet31:120-3 1981 |
| PubMed ID: 6273073 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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