Description:
HEMOGLOBIN--ALPHA LOCUS 1; HBA1
HEMOGLOBIN--BETA LOCUS; HBB
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases |
Class |
Mutations of the Hemoglobin Loci |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Race
|
Black/African American
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
|
Remarks |
Clinically healthy; hemoglobin C/alpha-thalassemia trait; hemoglobin electrophoresis results: HbA = 61%, HbA2 = 3.7%, HbF = 0%, HbS = 0%, HbC = 35.7%; hemoglobin = 15.6 g/dl; MCV = 76.8.
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