Description:
RETINOBLASTOMA; RB1 OSTEOSARCOMA, RETINOBLASTOMA-RELATED, INCLUDED
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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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Ethnicity
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ENGLISH
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Family Member
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2
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Relation to Proband
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brother
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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 |
Clinically asymptomatic; RB gene carrier; a brother has unilateral retinoblastoma; Esterase D type 1,2 |
| Connolly MJ, Payne RH, Johnson G, Gallie BL, Allderdice PW, Marshall WH, Lawton RD, Familial, EsD-linked, retinoblastoma with reduced penetrance and variable expressivity. Hum Genet65:122-4 1983 |
| PubMed ID: 6654325 |
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