Description:
SIALIC ACID STORAGE DISEASE; SIASD
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Lysosomal Storage Diseases |
Class |
Disorders of Carbohydrate Metabolism |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Remarks |
Developmental delay; tremor; titubation; microcephaly; broad-based gait; thin corpus callosum & delayed myelination; incr sialic acid in urine; elev bound & free sialic acid in fibroblasts; EM exam pos for lysosomal storage dis; P2 at CCR |
Split Ratio |
1:5 |
Temperature |
37 C |
Percent CO2 |
8% |
Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
Serum |
10% fetal bovine serum Heat Inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
|
|