Description:
SIALIC ACID STORAGE DISEASE; SIASD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
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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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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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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
11 |
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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 |
Clinically affected; urine: free sialic acid (nmoles/mg creatinine) was 1297 (normal control = 250); developmental delay; hepatomegaly; frequent episodes of otitis media; mild coarse facies; epicanthal folds; anteverted nostrils; bilateral talipes equinovarus; vertebral beaking |
| Yano S, Falk RE, Natowicz MR, Williams JC, Case of the month. A 3.5-year-old female with developmental delays, hepatomegaly, and coarse facies. Eur J Pediatr156(8):661-3 1997 |
| PubMed ID: 9266203 |
| Passage Frozen |
11 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
Sodium Pyruvate 100mM |
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