Description:
PORPHYRIA CUTANEA TARDA
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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 |
| Alternate IDs |
GM17281 [PORPHYRIA CUTANEA TARDA] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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Race
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White
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Family Member
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2
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|
Relation to Proband
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father
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Confirmation
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Biochemical characterization - other
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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 and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| uroporphyrinogen decarboxylase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 4.1.1.37; 68% activity. |
| |
| Remarks |
Clinically unaffected; normal hematogical data & porphyrin output; 68% of normal uroporphyrinogen decarboxylase activity in erythrocytes; approx 60% of normal UROD RBC protein; Hepatoerythropoietic Porphyria carrier |
| Fujita H, Sassa S, Toback AC, Kappas A, Immunochemical study of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria. J Clin Invest79:1533-7 1987 |
| PubMed ID: 3571497 |
| |
| Toback AC, Sassa S, Poh-Fitzpatrick MB, Schechter J, Zaider E, Harber LC, Kappas A, Hepatoerythropoietic porphyria: clinical, biochemical, and enzymatic studies in a three-generation family lineage. N Engl J Med316:645-50 1987 |
| PubMed ID: 3821794 |
|