Description:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| 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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Family Member
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1
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Relation to Proband
|
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 Isoenzyme Electrophoresis |
| |
| Remarks |
Non-Portuguese; see GM01998 Fibroblast; 4 affected generations (all female); vitreous opacities & perivascular exudates; affected mother died at age 21 |
| Wong VG, McFarlin DE, Primary familial amyloidosis. Arch Ophthalmol78:208-13 1967 |
| PubMed ID: 4952599 |
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