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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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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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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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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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 |
Pancreatic cysts; daughter died from cerebellar hemangioblastoma; mother & 3 sibs are also affected; PFGE showed 380Kb deletion in VHL gene region |
| Yao M, Latif F, Orcutt ML, Kuzmin I, Stackhouse T, Zhou FW, Tory K, Duh FM, Richards F, Maher E, et al, von Hippel-Lindau disease: identification of deletion mutations by pulsed-field gel electrophoresis. Hum Genet92:605-14 1993 |
| PubMed ID: 8262521 |
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| Hosoe S, Brauch H, Latif F, Glenn G, Daniel L, Bale S, Choyke P, Gorin M, Oldfield E, Berman A, et al, Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3. Genomics8:634-40 1990 |
| PubMed ID: 2276737 |
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| Horton WA, Wong V, Eldridge R, Von Hippel-Lindau disease: clinical and pathological manifestations in nine families with 50 affected members. Arch Intern Med136:769-777 1976 |
| PubMed ID: 945722 |
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