GM13964
LCL from B-Lymphocyte
Description:
GIANT PLATELET SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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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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LCL from B-Lymphocyte
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Race
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Black/African American
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Relation to Proband
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proband
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Confirmation
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Molecular characterization - other
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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 |
Epistaxis; severe menorrhagia; G.I. bleeding; thrombocytopenia with giant platelets; long bleeding time; deficient platelet adhesiveness; homozygous for GP Ib-alpha mutation |
| dbSNP |
dbSNP ID: 11972 |
| NCBI GTR |
231200 BERNARD-SOULIER SYNDROME; BSS |
| OMIM |
231200 BERNARD-SOULIER SYNDROME; BSS |
| Omim Description |
BERNARD-SOULIER SYNDROME, AUTOSOMAL DOMINANT, INCLUDED |
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BERNARD-SOULIER SYNDROME, TYPE A, INCLUDED |
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BERNARD-SOULIER SYNDROME; BSS |
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GIANT PLATELET SYNDROME |
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GLYCOCALICIN, INCLUDED |
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GP Ib, ALPHA SUBUNIT, INCLUDED |
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MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE, INCLUDED |
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PLATELET GLYCOPROTEIN Ib, DEFICIENCY OFGLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE, INCLUDED; GP1BA, INCLUDED |
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PLATELET GLYCOPROTEIN Ib, POLYMORPHISM OF, INCLUDED |
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VON WILLEBRAND DISEASE, PLATELET TYPE, INCLUDED |
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VON WILLEBRAND FACTOR RECEPTOR, DEFICIENCY OF, INCLUDED |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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