NA11473
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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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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Canis familiaris
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Common Name
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dog
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Remarks
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| PDL at Freeze |
3.61 |
| Passage Frozen |
1 |
| |
| beta-galactosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.23 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Portuguese Water dog; GM1 gangliosidosis; ataxia, tremors, awkward gait; deficient umbilical cord beta-galactosidase activity; same litter as GM11474; skin fibroblast culture from a 5 mo old female |
| Rudinskiy M, Pons-Vizcarra M, Soldà T, Fregno I, Bergmann TJ, Ruano A, Delgado A, Morales S, Barril X, Bellotto M, Cubero E, García-Collazo AM, Pérez-Carmona N, Molinari M, Validation of a highly sensitive HaloTag-based assay to evaluate the potency of a novel class of allosteric ß-Galactosidase correctors PloS one18:e0294437 2023 |
| PubMed ID: 38019733 |
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| 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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