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 |
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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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 Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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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 |
Mild photosensitivity & markedly elevated protoporphyrin IX in red cells & feces; PHA/PWM stimulated lymphocytes accumulate protoporphyrin IX following incubation with delta-aminolevulinic acid; deficient ferrochelatase activity |
| Sassa S, Zalar GL, Poh-Fitzpatrick MB, Anderson KE, Kappas A, Studies in porphyria: functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythropoietic protoporphyria. J Clin Invest69:809-15 1982 |
| PubMed ID: 6804493 |
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