NA06342
DNA from Fibroblast
Description:
HEMOGLOBIN, GAMMA A; HBG1
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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 |
GM17347 [HEMOGLOBIN, GAMMA A; HBG1] |
| Quantity |
0.050mg |
| 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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| Passage Frozen |
9 |
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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 |
Kenyan; healthy; HbS-Hb Kenya-gamma(G)HPFH condition; mother has sickle cell trait; non-alpha chain of Hb Kenya shows amino terminal segment seq (1-80) of the gamma chain of HbF and carboxy terminal segment (87-146) of beta chain of HbA |
| Repping S, van Daalen SK, Brown LG, Korver CM, Lange J, Marszalek JD, Pyntikova T, van der Veen F, Skaletsky H, Page DC, Rozen S, High mutation rates have driven extensive structural polymorphism among human Y chromosomes Nature genetics38:463-7 2005 |
| PubMed ID: 16501575 |
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| Kendall AG, Ojwang PJ, Schroeder WA, Huisman TH, Hemoglobin Kenya, the product of a gamma-beta fusion gene: studies of the family. Am J Hum Genet25:548-63 1973 |
| PubMed ID: 4741849 |
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| Huisman TH, Wrightstone RN, Wilson JB, Schroeder WA, Kendall AG, Hemoglobin Kenya, the product of fusion of amd polypeptide chains. Arch Biochem Biophys153:850-3 1972 |
| PubMed ID: 4676910 |
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