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 |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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Race
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Black/African American
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Family Member
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2
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 LINE assay |
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| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 1 |
141900.0227; HEMOGLOBIN PROVIDENCE |
| Identified Mutation |
LYS83ASN (c.249G>C); See Moo-Penn et al. (1976), Charache et al. (1977), and Bardakdjian et al. (1985).
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| Remarks |
Clinically healthy; hemoglobin Providence; history of renal failure; hemoglobin electrophoresis results: HbA = 44.9%, HbA2 = 2.8%, HbF = 0%, HbS = 0%, Hb Providence = 52.3%; hemoglobin = 14.4 g/dl; MCV = 89.7; sequencing based testing for the entire coding region, promoter region, and 3 deep intronic regions and MLPA testing to detect deletions and duplications revealed no HbS/C and no deletion; donor subject has a heterozygous mutation in the HBB gene: c.249G>C, Lys83Asn (K83N); sister is GM20459.
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| Moo-Penn WF, Jue DL, Bechtel KC, Johnson MH, Schmidt RM, Hemoglobin Providence A human hemoglobin variant occurring in two forms in vivo The Journal of biological chemistry251:7557-62 1976 |
| PubMed ID: 1002699 |
| 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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