GM04916
LCL from B-Lymphocyte
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 |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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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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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| N-acetylgalactosamine-4-sulfatase |
Tempesta et al (Clin Chim Acta 202:149-166 1991) reported that this lymphoblast culture established from a patient with multiple sulfatase deficiency had dramatically reduced levels of cerebroside sulfatase arylsulfatase A arylsulfatase B and steroid sulfatase. EC Number: 3.1.6.12 |
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| cerebroside-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.8; 23% activity. |
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| cerebroside-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.8; 5% activity. |
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| cerebroside-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.8; 5% activity. |
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| cerebroside-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.8; 5% activity. |
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| Remarks |
Clinically affected; severely mentally retarded; dysostosis multiplex; ichthyotic rash; normal levels of arylsulfatase A present in 23% of tested fibroblasts and less than 5% in urine, leukocytes, and serum; elevated urinary sulfatides and mucopolysaccharides.
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| Tempesta MC, Levade T, Salvayre R, Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays. Clin Chim Acta202:149-65 1991 |
| PubMed ID: 1687673 |
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| Burk, Multiple sulfatase deficiency (MSD): Clinical and biochemical studies in two patients. Am J Hum Genet33:72A (1981):149-65 1981 |
| PubMed ID: 1687673 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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