GM08668
LCL from B-Lymphocyte
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 |
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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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LCL from B-Lymphocyte
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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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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 |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| uroporphyrinogen decarboxylase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 4.1.1.37; 3% activity. |
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| uroporphyrinogen decarboxylase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 4.1.1.37; 27% activity. |
| |
| Remarks |
Mild clinical symptoms; skin fragility and photosensitivity manifest at age 6; 3 unaffected children; elevated urinary porphyrins; elevated stool and urine isocoproporphyrin; 27% of RBC & 3% of lymphoid normal UROD activity; 5% of normal UROD RBC protein |
| 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 |
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| 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 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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