GM03118
Fibroblast from Skin, Unspecified
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 |
| Class |
Heritable Cancer Syndromes and other Cancers |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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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,del(11)(pter>p13::p11.2>qter)[33]/ 46,XX,del(11)(pter>p13::p11.2>qter), t(7;22)(7qter>7p15::22p12>22pter;22qter>22p12::7p15>7pter)[17]
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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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| Passage Frozen |
6 |
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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 |
| Remarks |
Bilateral; bilateral aniridia; new intrarenal mass; skin fibroblast culture; 46,XX,del(11)(pter>p13::p11.2>qter); 34% of cells have an additional t(7;22)(p15; p12); del(11) lacks genes for D11S9, CAT and FSHB |
| 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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| Glaser T, Lewis WH, Bruns GA, Watkins PC, Rogler CE, Shows TB, Powers VE, Willard HF, Goguen JM, Simola KO, et al, The beta-subunit of follicle-stimulating hormone is deleted in patients with aniridia and Wilms' tumour, allowing a further definition of the WAGR locus. Nature321:882-7 1986 |
| PubMed ID: 3014343 |
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| Schor SL, Schor AM, Durning P, Rushton G, Skin fibroblasts obtained from cancer patients display foetal-like migratory behaviour on collagen gels. J Cell Sci73:235-44 1985 |
| PubMed ID: 4019594 |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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