NA05005
DNA from Fibroblast
Description:
PROTOPORPHYRIA, ERYTHROPOIETIC
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.31 |
| Passage Frozen |
21 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| 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 |
| |
| ferrochelatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 4.99.1.1 |
| |
| 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 |
| |
| 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 |
|