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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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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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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| PDL at Freeze |
7.87 |
| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| N-acetylgalactosamine-4-sulfatase |
Jin et al (Am J Hum Genet 50:795-800 1992) reported that this Mucopolysaccharidosis type VI patient had deficient ASB enzyme activity and was negative for ASB mutations C117R and L236P. EC Number: 3.1.6.12 |
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| Remarks |
See GM01022A Lymph; deficient Arylsulfatase B; short, coarse facies, prominent forehead, corneal opacities, lumbar kyphosis, stiff joints, umbilical hernia, mild hepatosplenomegaly, and dysostosis multiplex |
| Lawrence R, Prill H, Vachali PP, Adintori EG, de Hart G, Wang RY, Burton BK, Pasquali M, Crawford BE, Characterization of disease-specific chondroitin sulfate non-reducing end accumulation in mucopolysaccharidosis IVA Glycobiology: 2019 |
| PubMed ID: 31897472 |
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| Jin WD, Jackson CE, Desnick RJ, Schuchman EH, Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity. Am J Hum Genet50:795-800 1992 |
| PubMed ID: 1550123 |
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| Epstein EH Jr, Leventhal ME, Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis. J Clin Invest67:1257-62 1981 |
| PubMed ID: 6939689 |
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| DeLuca C, Brown JA, Shows TB, Lysosomal arylsulfatase deficiencies in humans: chromosome assignments for arylsulfatase A and B. Proc Natl Acad Sci U S A76:1957-61 1979 |
| PubMed ID: 36611 |
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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 |
| Cumulative PDL at Freeze |
7.87 |
| Passage Frozen |
3 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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