Description:
GALACTOSIALIDOSIS; GSL
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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 Carbohydrate 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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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 |
23 |
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| exo-alpha-sialidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.18; 6% activity. |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
Coarse facies, hepatosplenomegaly, lumbar kyphosis, and no signs of neurological or ocular abnormalities; 10% of normal B-galactosidase and 6% of normal sialidase activity in fibroblasts |
| Pshezhetsky AV, Potier M, Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate. J Biol Chem271:28359-65 1996 |
| PubMed ID: 8910459 |
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| Andria, Infantile neuraminidase and B-galactosidase deficiencies (galactosialidosis) with mild clinical courses. Perspect Inher Metab Dis4:379 (1981):28359-65 1981 |
| PubMed ID: 8910459 |
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| Hoogeveen A, d'Azzo A, Brossmer R, Galjaard H, Correction of combined beta-galactosidase/neuraminidase deficiency in human fibroblasts. Biochem Biophys Res Commun103:292-300 1981 |
| PubMed ID: 6797429 |
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| Swallow DM, Hoogeveen AT, Verheijen FW, Galjaard H, Complementation analysis of human sialidase deficiency using natural substrates. Ann Hum Genet45:105-12 1981 |
| PubMed ID: 7316479 |
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| Reuser AJ, Andria G, de Wit-Verbeek E, Hoogeveen A, del Giudice E, Halley D, A two-year-old patient with an atypical expression of GM1-beta- galactosidase deficiency: biochemical, immunological, and cell genetic studies. Hum Genet46:11-9 1979 |
| PubMed ID: 107114 |
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| Andria G, Del Giudice E, Reuser AJ, Atypical expression of beta-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities. Clin Genet14:16-23 1978 |
| PubMed ID: 98248 |
| Passage Frozen |
23 |
| Split Ratio |
1:3 |
| 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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