NA01998
DNA from Fibroblast
Description:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Non-Portuguese; see GM01999 Lymphoid; 4 affected generations (all female); vitreous opacities and perivascular exudates; affected mother died at age 21 |
| Piepkorn M, Hovingh P, Linker A, Evidence for independent metabolism and cell surface localization of cell surface localization of cellular proteoglycans and glycosaminoglycan free chains. J Cell Physiol135:189-99 1988 |
| PubMed ID: 3131350 |
| |
| Wong VG, McFarlin DE, Primary familial amyloidosis. Arch Ophthalmol78:208-13 1967 |
| PubMed ID: 4952599 |
|
|