Description:
VON HIPPEL-LINDAU SYNDROME; VHL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Ophthalmologic Disorders |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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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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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 |
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| Remarks |
Renal cell carcinoma; father, grandfather, and brother are also affected; gp7 cDNA EcoRI fragment segregates with disease |
| Glenn GM, Linehan WM, Hosoe S, Latif F, Yao M, Choyke P, Gorin MB, Chew E, Olfield E, Manolatos C, et al, Screening for von Hippel-Lindau disease by DNA polymorphism analysis. JAMA267:1226-31 1992 |
| PubMed ID: 1347089 |
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