GM03246
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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Family Member
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1
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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 arylsufatase 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 |
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| N-acetylgalactosamine-4-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.12 |
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| Remarks |
See GM03245 Fibroblast; microcephaly, delayed psychomotor development; hypotonia, weakness, blind, deaf, and myoclonus; deficient arylsulfatase A,B, and C in leukocytes; excess mucopolysaccharides in urine (mostly heparan sulfate) |
| 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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| Phillipart, Multiple sulfatase deficiency presenting as Sanfilippo A disease. Pediatr Res9:316 (1975):149-65 1975 |
| PubMed ID: 1687673 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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