NA04930
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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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Clinical summary/Case history
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ISCN
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46,XY
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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 |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Remarks |
Gamma(A)+ thalassemia homozygote; nearly 100% gamma(G) in cord blood HbF; percentage was consistently greater than 90% up to 300 days after birth; 46,XY; 12% of cells show random chromosome loss |
| dbSNP |
dbSNP ID: 10770 |
| 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 |
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