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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| PDL at Freeze |
5.4 |
| Passage Frozen |
4 |
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Deficient lactosylceramide beta-galactosidase |
| Lieberman R, Cortes LK, Gao G, Park H, Wang B, Jones PL, Hunter RB, Leonard JP, Barker RH, Human iPSC-derived astrocytes generated from donors with globoid cell leukodystrophy display phenotypes associated with disease PloS one17:e0271360 2022 |
| PubMed ID: 35921286 |
| dbSNP |
dbSNP ID: 17093 |
| 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 |
| Cumulative PDL at Freeze |
10.7 |
| Passage Frozen |
4 |
| Split Ratio |
1:6 |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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