NA06938
DNA from Fibroblast
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 |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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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,XY,del(11)(p14p13).arr 11p14.1p13(28228292-34918867)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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| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Glucose-6-Phosphate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 11: DELETION Aneuploid Segment (-)11p14>11p13 |
| Remarks |
Micropenis; cryptorchidism; bilateral aniridia; optic nerve atrophy; genital skin fibroblast culture; 46,XY,del(11) (pter>p14.1::p13>qter); see GM07736 Lymphoid |
| Parivesh A, Délot E, Reyes A, Ryan J, Bhattacharya S, Harley V, Vilain E, Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development Biology of sex differences15:24 2023 |
| PubMed ID: 38520033 |
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| 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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