NA11474
DNA from Fibroblast
Description:
CANINE GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1
CANIS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Animals
Lysosomal Storage Diseases |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Family Member
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2
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Relation to Proband
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sister
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Confirmation
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Clinical summary/Case history
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Species
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Canis familiaris
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Common Name
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dog
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Remarks
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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 |
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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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| Remarks |
Portuguese Water dog; GM1 gangliosidosis; ataxia, tremors, awkward gait; deficient umbilical cord beta-galactosidase activity; same litter as GM11473; skin fibroblast culture from a 5 month old female |
| Ahern-Rindell AJ, Kretz KA, O'Brien JS, Comparison of the canine and human acid beta-galactosidase gene. Am J Med Genet63:340-5 1996 |
| PubMed ID: 8725782 |
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