GM12261
LCL from B-Lymphocyte
Description:
PORPHYRIA, ACUTE HEPATIC
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Other Disorders of Known Biochemistry |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
|
porphobilinogen synthase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 4.2.1.24; <2% activity. |
|
Remarks |
Homozygous; excessive excretion of delta-aminolevulinic acid & porphyrins; < 2% control RBC ALA-D activity; 22% of control cross-reactive immunologic material; repeated attacks of abdominal colics & motor neuropathy |
Doss M, Benkmann HG, Goedde HW, delta-Aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiency. Clin Genet30:191-8 1986 |
PubMed ID: 3780034 |
|
de Verneuil H, Doss M, Brusco N, Beaumont C, Nordmann Y, Hereditary hepatic porphyria with delta aminolevulinate dehydrase deficiency: immunologic characterization of the non-catalytic enzyme. Hum Genet69:174-7 1985 |
PubMed ID: 3882553 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
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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