Description:
KRABBE DISEASE
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
|
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
|
|
Family Member
|
1
|
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Relation to Proband
|
parent
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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 |
7 |
| |
| galactosylceramidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.46; 35% activity. |
| |
| Remarks |
Proband not in Repository; 35% of normal galactocerebroside beta-galactosidase activity; clinically unaffected |
| dbSNP |
dbSNP ID: 15126 |
| 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 |
| |
GLOBOID CELL LEUKODYSTROPHY; GLD; GCL |
| |
GLOBOID CELL LEUKOENCEPHALOPATHY |
| |
KRABBE DISEASE |
| Passage Frozen |
7 |
| 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 |
- |
|
|