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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2
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Relation to Proband
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father
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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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|
| Remarks |
Clinically unaffected; levels of arylsulfatase B consistent with heterozygote; affected and unaffected family members (family #51) also in repository.
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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 |
| |
| 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 |
| Passage Frozen |
8 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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