GM01022
LCL from B-Lymphocyte
Description:
MUCOPOLYSACCHARIDOSIS TYPE VI
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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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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, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase 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 Maroteaux-Lamy syndrome (Mucopolysaccharidosis type VI) had virtually no arylsulfatase B activity. EC Number: 3.1.6.12; 0% activity. |
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| Remarks |
Deficient arylsulfatase B; short, coarse facies, prominent forehead, corneal opacities, lumbar kyphosis, stiff joints, umbilical hernia, mild hepatosplenomegaly, and dysostosis multiplex; see GM00519 Fibroblast; same patient as GM05358 |
| 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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| Beratis NG, Hirschhorn K, Friedman S, Greene AE, Coriell LL, Maroteaux-Lamy syndrome: repository identification nos. GM- 519,520,935,943, and 1022. Cytogenet Cell Genet17:236-8 1976 |
| PubMed ID: 826372 |
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| Beratis NG, Turner BM, Weiss R, Hirschhorn K, Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification. Pediatr Res9:475-80 1975 |
| PubMed ID: 806052 |
| Split Ratio |
1:4 |
| 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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