NA01850
DNA from Fibroblast
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 |
| Alternate IDs |
GM17101 [MUCOPOLYSACCHARIDOSIS TYPE VII] |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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Black/African American
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Ethnicity
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AFRICAN-AMERICAN
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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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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 |
7 |
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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 |
| |
| 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 |
W627C; MUCOPOLYSACCHARIDOSIS TYPE VII |
| Identified Mutation |
TRP627CYS |
| Remarks |
About 20% of normal beta-glucuronidase activity; clinically unaffected father of GM00121A; one allele has the W627C mutation in the GUSB gene: a G>T transversion (Trp627> Cys) in exon 12 |
| Sha MY, Walton ID, Norton SM, Taylor M, Yamanaka M, Natan MJ, Xu C, Drmanac S, Huang S, Borcherding A, Drmanac R, Penn SG, Multiplexed SNP genotyping using nanobarcode particle technology Analytical and bioanalytical chemistry384:658-66 2005 |
| PubMed ID: 16421712 |
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| 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 |
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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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