GM01999
LCL from B-Lymphocyte
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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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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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| 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 |
| dbSNP |
dbSNP ID: 16426 |
| 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 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
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