NA05005
DNA from Fibroblast
Description:
PROTOPORPHYRIA, ERYTHROPOIETIC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
10 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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White
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Family Member
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1
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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 |
4.31 |
| Passage Frozen |
21 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| ferrochelatase |
Brenner et al (Am J Hum Genet 50:1203-1210 1992) reported that this fibroblast culture from a patient with protoporphyria had deficient ferrochelatase activity. Ferrochelatase mRNA levels measured by northern blotting were found to be equal to those found in normal controls. EC Number: 4.99.1.1 |
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| ferrochelatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 4.99.1.1 |
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| Remarks |
Photosensitivity since infancy; deficient heme synthetase activity; normal delta-aminolevulinic acid synthetase activity; positive family history; fibro show normal ferrochelatase mRNA levels & def enzyme activity |
| Bloomer JR, Bonkowsky HL, Ebert PS, Mahoney MJ, Inheritance in protoporphyria. Comparison of haem synthetase activity in skin fibroblasts with clinical features. Lancet2:226-228 1976 |
| PubMed ID: 59242 |
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| Bonkowsky HL, Bloomer JR, Ebert PS, Mahoney MJ, Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts. J Clin Invest56:1139-48 1975 |
| PubMed ID: 1184741 |
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