NA01368
DNA from Fibroblast
Description:
HEMOGLOBIN F, HEREDITARY PERSISTENCE OF
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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 |
50 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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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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| PDL at Freeze |
6.31 |
| Passage Frozen |
11 |
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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 |
Well, but has 100% fetal hemoglobin; shows substantial deletion of delta and beta globin genes on both chromosomes 11; 46,XY; patient is doubly heterozygous for both forms of deletion type HPFH found in blacks (HPFH 1 and 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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| Fritsch EF, Lawn RM, Maniatis T, Characterisation of deletions which affect the expression of fetal globin genes in man. Nature279:598-603 1979 |
| PubMed ID: 450109 |
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| Kan YW, Holland JP, Dozy AM, Charache S, Kazazian HH, Deletion of the beta-globin structure gene in hereditary persistence of foetal haemoglobin. Nature258:162-3 1975 |
| PubMed ID: 1186896 |
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