Description:
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I
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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 |
7 |
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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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| beta-galactosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.23; <1% activity. |
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| Remarks |
Mildly coarse facial features; startles easily; puffy eyelids; hepatomegaly; <1% of control fibroblast beta-galactosidase activity and normal alpha-neuraminidase activity |
| Glaros EN, Kim WS, Quinn CM, Wong J, Gelissen I, Jessup W, Garner B, Glycosphingolipid accumulation inhibits cholesterol efflux via the ABCA1/apolipoprotein A-I pathway: 1-phenyl-2-decanoylamino-3-morpholino-1-propanol is a novel cholesterol efflux accelerator The Journal of biological chemistry280:24515-23 2005 |
| PubMed ID: 15890646 |
| dbSNP |
dbSNP ID: 19378 |
| Gene Ontology |
GO:0004565 beta-galactosidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0009341 beta-galactosidase complex |
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GO:0016798 hydrolase activity, acting on glycosyl bonds |
| NCBI Gene |
Gene ID:2720 |
| NCBI GTR |
230500 GM1-GANGLIOSIDOSIS, TYPE I |
| OMIM |
230500 GM1-GANGLIOSIDOSIS, TYPE I |
| Omim Description |
BETA-GALACTOSIDASE-1 DEFICIENCY |
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GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I |
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GLB1 DEFICIENCYGALACTOSIDASE, BETA-1; GLB1, INCLUDED |
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MORQUIO DISEASE, TYPE B, INCLUDED |
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MPS IVB, INCLUDED |
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MUCOPOLYSACCHARIDOSIS TYPE IVB, INCLUDED |
| Passage Frozen |
7 |
| 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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