GM11474
Fibroblast from Skin, Unspecified
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 |
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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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Fibroblast from Skin, Unspecified
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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 |
| Split Ratio |
1:5 |
| 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 |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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