GM10610
LCL from B-Lymphocyte
Description:
HEMOGLOBIN F, HEREDITARY PERSISTENCE OF
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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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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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 |
Line LAZ-149; patient has 100% HbF; homozygous for HPFH-1; large (105Kb) deletion of beta globin gene cluster; also heterozygous for a single alpha globin gene deletion (alpha thalassemia 2) |
| Tuan D, Feingold E, Newman M, Weissman SM, Forget BG, Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man. Proc Natl Acad Sci U S A80:6937-41 1983 |
| PubMed ID: 6196781 |
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| Tuan D, Murnane MJ, deRiel JL, Forget BG, Heterogeneity in the molecular basis of hereditary persistence of fetal haemoglobin. Nature285:335-7 1980 |
| PubMed ID: 6154897 |
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| Tuan D, Biro PA, deRiel JK, Lazarus H, Forget BG, Restriction endonuclease mapping of the human gamma globin gene loci. Nucleic Acids Res6:2519-44 1979 |
| PubMed ID: 461196 |
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| Forget BG, Hillman DG, Lazarus H, Barell EF, Benz ej JR, Caskey CT, Huisman TH, Schroeder WA, Housman D, Absence of messenger RNA and gene DNA for beta-globin chains in hereditary persistence of fetal hemoglobin. Cell7:323-9 1976 |
| PubMed ID: 947544 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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