Description:
KRABBE 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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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 |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase 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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| galactosylceramidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.46 |
| |
| Remarks |
Atypical; bilateral cherry-red spots in retinas; symmetric spasticity; extremely irritable; unable to tolerate liquids; expired at age 18 months; deficient fibroblast galactosylceramide B-galactosidase and lactosylceramide I activity |
| dbSNP |
dbSNP ID: 22534 |
| 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 |
8 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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