Description:
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
7.93 |
| Passage Frozen |
11 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Weak suck; poor feeding; contractures in the newborn period; bell-shaped chest; abnormal ribs & lower spine; dysostosis multiplex; asymmetry to facies; periorbital edema; large ears with poor helix development |
| dbSNP |
dbSNP ID: 14865 |
| Gene Ontology |
GO:0004565 beta-galactosidase activity |
|
GO:0005764 lysosome |
|
GO:0005975 carbohydrate metabolism |
|
GO:0009341 beta-galactosidase complex |
|
GO:0016798 hydrolase activity, acting on glycosyl bonds |
| NCBI Gene |
Gene ID:2720 |
| NCBI GTR |
230500 GM1-GANGLIOSIDOSIS, TYPE I |
| OMIM |
230500 GM1-GANGLIOSIDOSIS, TYPE I |
| Omim Description |
BETA-GALACTOSIDASE-1 DEFICIENCY |
| |
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I |
| |
GLB1 DEFICIENCYGALACTOSIDASE, BETA-1; GLB1, INCLUDED |
| |
MORQUIO DISEASE, TYPE B, INCLUDED |
| |
MPS IVB, INCLUDED |
| |
MUCOPOLYSACCHARIDOSIS TYPE IVB, INCLUDED |
| Passage Frozen |
11 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
Commercially-treated plastic |
| Supplement |
Sodium Pyruvate 1% |
|
|