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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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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| Passage Frozen |
6 |
| |
| 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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| beta-glucuronidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.31; <5% activity. |
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| Remarks |
Less than 5% of normal beta-glucuronidase activity; similarly affected sister |
| Olsen I, Bou-Gharios G, Abraham D, Chain B, Lysosomal enzyme transfer from different types of lymphoid cell. Exp Cell Res209:133-9 1993 |
| PubMed ID: 8223997 |
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| Wolfe JH, Schuchman EH, Stramm LE, Concaugh EA, Haskins ME, Aguirre GD, Patterson DF, Desnick RJ, Gilboa E, Restoration of normal lysosomal function in mucopolysaccharidosis type VII cells by retroviral vector-mediated gene transfer. Proc Natl Acad Sci U S A87:2877-81 1990 |
| PubMed ID: 2158095 |
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| Olsen I, Oliver T, Muir H, Smith R, Partridge T, Role of cell adhesion in contact-dependent transfer of a lysosomal enzyme from lymphocytes to fibroblasts. J Cell Sci85:231-44 1986 |
| PubMed ID: 3793794 |
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| Dean MF, McNamara A, Jenne BM, Direct transfer of beta-glucuronidase from mouse macrophages to other types of cell. J Cell Sci79:137-49 1985 |
| PubMed ID: 3914478 |
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| McNamara A, Jenne BM, Dean MF, Fibroblasts acquire beta-glucuronidase by direct and indirect transfer during co-culture with macrophages. Exp Cell Res160:150-7 1985 |
| PubMed ID: 4043242 |
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| Schor SL, Schor AM, Durning P, Rushton G, Skin fibroblasts obtained from cancer patients display foetal-like migratory behaviour on collagen gels. J Cell Sci73:235-44 1985 |
| PubMed ID: 4019594 |
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| Dean MF, Olsen I, Muir H, Identification of rabbit and mouse beta-glucuronidases in human fibroblasts following direct interaction with lymphocytes. Biochim Biophys Acta721:441-8 1982 |
| PubMed ID: 7159606 |
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| 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 |
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| 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 |
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| Chern CJ, Tan P, Park H, Chromosomal mapping of human creatine kinase (brain type) using human- rodent somatic cell hybrids. Cytogenet Cell Genet27:232-7 1980 |
| PubMed ID: 6934066 |
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| Fischer HD, Gonzalez-Noriega A, Sly WS, Beta-glucuronidase binding to human fibroblast membrane receptors. J Biol Chem255:5069-74 1980 |
| PubMed ID: 6768729 |
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| Fischer HD, Natowicz M, Sly WS, Bretthauer RK, Fibroblast receptor for lysosomal enzymes mediates pinocytosis of multivalent phosphomannan fragment. J Cell Biol84:77-86 1980 |
| PubMed ID: 7350171 |
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| Croce CM, Barrick J, Linnenbach A, Koprowski H, Expression of malignancy in hybrids between normal and malignant cells. J Cell Physiol99:279-85 1979 |
| PubMed ID: 457790 |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| 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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