Description:
FABRY DISEASE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
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7
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Relation to Proband
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maternal aunt
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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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| PDL at Freeze |
5.02 |
| Passage Frozen |
8 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| alpha-galactosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.22; 50% activity. |
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| Remarks |
50% of normal alpha-gal A, normal alphagal B; Xg(a) antigen +/-; two affected sons; two populations of cells, one with normal alpha-galactosidase A activity and a second with deficient enzyme activity observed using cell sorting |
| Kobayashi T, Shinnoh N, Kuroiwa Y, Metabolism of ceramide trihexoside in cultured skin fibroblasts from Fabry's patients, carriers and normal controls. J Neurol Sci65:169-77 1984 |
| PubMed ID: 6090593 |
| |
| Jongkind JF, Verkerk A, Niermeijer MF, Detection of Fabry's disease heterozygotes by enzyme analysis in single fibroblasts after cell sorting. Clin Genet23:261-6 1983 |
| PubMed ID: 6303650 |
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| Ropers HH, Wienker TF, Grimm T, Schroetter K, Bender K, Evidence for preferential X-chromosome inactivation in a family with Fabry disease. Am J Hum Genet29:361-70 1977 |
| PubMed ID: 406783 |
| Passage Frozen |
8 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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