Description:
KRABBE DISEASE
MONOZYGOTIC TWIN PAIRS
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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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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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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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| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| galactosylceramidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.46 |
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| Remarks |
Clinically affected; monozygotic twin (one placenta, one sac) of GM03046A; fibroblasts show a deficiency of taurocholate activated galactosylceramidase |
| Kobayashi T, Shinnoh N, Goto I, Kuroiwa Y, Hydrolysis of galactosylceramide is catalyzed by two genetically distinct acid beta-galactosidases. J Biol Chem260:14982-7 1985 |
| PubMed ID: 3934152 |
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| Kobayashi T, Shinnoh N, Goto I, Kuroiwa Y, Okawauchi M, Sugihara G, Tanaka M, Galactosylceramide- and lactosylceramide-loading studies in cultured fibroblasts from normal individuals and patients with globoid cell leukodystrophy (Krabbe's disease) and GM1-gangliosidosis. Biochim Biophys Acta835:456-64 1985 |
| PubMed ID: 3926002 |
| dbSNP |
dbSNP ID: 20300 |
| NCBI GTR |
245200 KRABBE DISEASE |
| OMIM |
245200 KRABBE DISEASE |
| Omim Description |
GALACTOCEREBROSIDASE DEFICIENCY |
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GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY |
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GALC DEFICIENCYGALACTOSYLCERAMIDASE, INCLUDED; GALC, INCLUDED |
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GLOBOID CELL LEUKODYSTROPHY; GLD; GCL |
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GLOBOID CELL LEUKOENCEPHALOPATHY |
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KRABBE DISEASE |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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