GM16528
LCL from B-Lymphocyte
Description:
HEMOGLOBIN--BETA LOCUS; HBB
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Mutations of the Hemoglobin Loci |
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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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White
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Ethnicity
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MIDDLE EASTERN
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Family Member
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2
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Relation to Proband
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brother
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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,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected; hemoglobin 10.2g/dl; MCV 58fl; electrophoresis: A-91%, F-9%; reticulocytes 54 x 10 9/L; Hb A 2-5.9%; no Heinz bodies observed |
| dbSNP |
dbSNP ID: 16609 |
| Gene Cards |
HBB |
| Gene Ontology |
GO:0005344 oxygen transporter activity |
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GO:0005833 hemoglobin complex |
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GO:0006810 transport |
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GO:0015671 oxygen transport |
| NCBI Gene |
Gene ID:3043 |
| NCBI GTR |
141900 HEMOGLOBIN--BETA LOCUS; HBB |
| OMIM |
141900 HEMOGLOBIN--BETA LOCUS; HBB |
| Omim Description |
BETA-THALASSEMIAS, INCLUDED |
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DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE, INCLUDED |
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ERYTHREMIA, BETA-GLOBIN TYPE, INCLUDED |
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HEINZ BODY ANEMIAS, BETA-GLOBIN TYPE, INCLUDED |
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HEMOGLOBIN--BETA LOCUS; HBBSICKLE CELL ANEMIA, INCLUDED |
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METHEMOGLOBINEMIA, BETA-GLOBIN TYPE, 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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