Description:
MUCOPOLYSACCHARIDOSIS TYPE VII
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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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Black/African American
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Family Member
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3
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Relation to Proband
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mother
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Confirmation
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Molecular characterization after cell line submission to CCR
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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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| Passage Frozen |
4 |
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| beta-glucuronidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.31; 20% activity. |
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| Gene |
GUSB |
| Chromosomal Location |
7q21.11 |
| Allelic Variant 1 |
R356X; MUCOPOLYSACCHARIDOSIS TYPE VII |
| Identified Mutation |
ARG356TER |
| Remarks |
About 20% of normal beta-glucuronidase activity; clinically unaffected mother of GM00121A; one allele has the Arg356Ter (R356X) mutation in the GUSB gene: a C>T transition that introduces a termination codon in exon 7 |
| Shipley JM, Klinkenberg M, Wu BM, Bachinsky DR, Grubb JH, Sly WS, Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. Am J Hum Genet52:517-26 1993 |
| PubMed ID: 7680524 |
| |
| Olsen I, Dean MF, Muir H, Harris G, Acquisition of beta-glucuronidase activity by deficient fibroblasts during direct contact with lymphoid cells. J Cell Sci55:211-31 1982 |
| PubMed ID: 7107725 |
| |
| Olsen I, Dean MF, Harris G, Muir H, Direct transfer of a lysosomal enzyme from lymphoid cells to deficient fibroblasts. Nature291:244-7 1981 |
| PubMed ID: 7231541 |
| Passage Frozen |
4 |
| 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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