GM08779
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 |
| Alternate IDs |
GM17166 [HEMOGLOBIN--BETA LOCUS; HBB] |
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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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Ethnicity
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AFRICAN-AMERICAN
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Family Member
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2
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Relation to Proband
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mother
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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 and by Chromosome Analysis |
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| Remarks |
46,XX,21s+; satellite area of one chromosome 21 appears darker than its homolog; at risk of having a child with sickle cell anemia; also is the mother of a son (GM06199 Fibro) with 46,XY,r(21) |
| Bleasby K, Hall LA, Perry JL, Mohrenweiser HW, Pritchard JB, Functional consequences of single nucleotide polymorphisms in the human organic anion transporter hOAT1 (SLC22A6) The Journal of pharmacology and experimental therapeutics314:923-31 2005 |
| PubMed ID: 15914676 |
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| Altshuler D, Pollara VJ, Cowles CR, Van Etten WJ, Baldwin J, Linton L, Lander ES, An SNP map of the human genome generated by reduced representation shotgun sequencing Nature407:513-6 2000 |
| PubMed ID: 11029002 |
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| Stetten G, Sroka B, Corson VL, Boehm CD, Prenatal detection of an unstable ring 21 chromosome. Hum Genet68:310-3 1984 |
| PubMed ID: 6510909 |
| dbSNP |
dbSNP ID: 11141 |
| 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 |
1:5 |
| 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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