Description:
TRANSTHYRETIN; TTR
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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 |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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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
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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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| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| 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 |
| dbSNP |
dbSNP ID: 17975 |
| Gene Cards |
TTR |
| Gene Ontology |
GO:0005386 carrier activity |
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GO:0005496 steroid binding |
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GO:0005576 extracellular |
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GO:0006590 thyroid hormone generation |
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GO:0006810 transport |
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GO:0015349 thyroid hormone transporter activity |
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GO:0019841 retinol binding |
| NCBI Gene |
Gene ID:7276 |
| NCBI GTR |
176300 TRANSTHYRETIN; TTR |
| OMIM |
176300 TRANSTHYRETIN; TTR |
| Omim Description |
AMYLOID POLYNEUROPATHY, MULTIPLE FORMS, INCLUDED |
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DYSPREALBUMINEMIC EUTHYROIDAL HYPERTHYROXINEMIA, INCLUDED |
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HYPERTHYROXINEMIA, DYSPREALBUMINEMIC, INCLUDED |
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HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC, INCLUDED |
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PALBAMYLOIDOSIS TYPE I, INCLUDED |
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PREALBUMIN, THYROXINE-BINDING; TBPA |
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SENILE SYSTEMIC AMYLOIDOSIS, INCLUDED |
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TRANSTHYRETIN; TTR |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
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