Description:
MULTIPLE SULFATASE DEFICIENCY
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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 Lipid Metabolism |
|
Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Biochemical characterization before cell line submission to CCR
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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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|
| PDL at Freeze |
6.88 |
| Passage Frozen |
16 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| cerebroside-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.8; <10% activity. |
| |
| N-acetylgalactosamine-4-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.12; <10% activity. |
| |
| Remarks |
Hepatosplenomegaly; mucopolysacchariduria; neurodegeneration; skeletal abnormalities; micropenis; polydactyly; less than 10% of control ASA, ASB, GalNAc6-S, ID-S, and STS activity; 46,XY in PBL |
| Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A, The multiple sulfatase deficiency gene encodes an essential and limiting factor
for the activity of sulfatases. Cell113(4):445-56 2003 |
| PubMed ID: 12757706 |
| |
| Zenger, Micropenis and polydactyly associated with multiple sulfatase deficiency. Am J Hum Genet45:A70 (1989):445-56 1989 |
| PubMed ID: 12757706 |
| Passage Frozen |
16 |
| Split Ratio |
1:3 |
| 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 |
None specified |
| Supplement |
- |
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