Description:
WILMS TUMOR 1; WT1
CHROMOSOME DELETION
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 |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
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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DNA from LCL
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
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Clinical summary/Case history
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ISCN
|
46,XY,del(11)(p14.1p12).arr 11p14.1p12(27902220-42939122)x1,11q22.3(109569394-109723108)x3
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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 |
|
Cytogenetics |
Chromosome 11: DELETION Aneuploid Segment (-)11p15>11p13 |
Remarks |
Aniridia; pseudohermaphroditism; Wilms tumor at age 2; mental retardation; 46, XY,del(11)(pter>p15.1::p13>qter); normal catalase activity |
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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Punnett, Deletion 11p13 with normal catalase activity. Pediatr Res17:217A (1983):1143-9 1983 |
PubMed ID: 23665875 |
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