GM11474
Fibroblast from Skin, Unspecified
Description:
CANINE GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1
CANIS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Animals
Lysosomal Storage Diseases |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Family Member
|
2
|
|
Relation to Proband
|
sister
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Canis familiaris
|
|
Common Name
|
dog
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| beta-galactosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.23 |
| |
| 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 |
- |
|
|