NA00470
DNA from Fibroblast
Description:
SANDHOFF DISEASE
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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 Lipid Metabolism |
| Alternate IDs |
GM17062 [SANDHOFF DISEASE] |
| 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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White
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Ethnicity
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MEXICAN
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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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| Remarks |
Deficient hexosaminidase A and B; < 1% of normal fibroblast preB-chain mRNA; Hex B gene shows no gross abnormalities; Mexican |
| Jurevic RJ, Bai M, Chadwick RB, White TC, Dale BA, Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays and association with Candida carriage in type I diabetics and nondiabetic controls. J Clin Microbiol41(1):90-6 2003 |
| PubMed ID: 12517831 |
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| O'Dowd BF, Klavins MH, Willard HF, Gravel R, Lowden JA, Mahuran DJ, Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis). J Biol Chem261:12680-5 1986 |
| PubMed ID: 3017984 |
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| Hasilik A, Neufeld EF, Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues. J Biol Chem255:4946-50 1980 |
| PubMed ID: 6989822 |
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| Hasilik A, Neufeld EF, Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight. J Biol Chem255:4937-45 1980 |
| PubMed ID: 6989821 |
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| Willcox P, Secretion of beta-N-acetylglucosaminidase isoenzymes by normal human fibroblasts. Biochem J173:433-9 1978 |
| PubMed ID: 697729 |
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| Wood S, Juvenile Sandhoff Disease: complementation tests with Sandhoff and Tay- Sachs disease using polyethylene glycol-induced cell fusion. Hum Genet41:325-9 1978 |
| PubMed ID: 417993 |
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| MacLeod PM, Wood S, Jan JE, Applegarth DA, Dolman CL, Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease. Neurology27:571-3 1977 |
| PubMed ID: 559267 |
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| Rattazzi MC, Brown JA, Davidson RG, Shows TB, Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis. Am J Hum Genet28:143-54 1976 |
| PubMed ID: 817596 |
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| Wood S, MacDougall BG, Juvenile Sandhoff disease: some properties of the residual hexosaminidase in cultured fibroblasts. Am J Hum Genet28:489-95 1976 |
| PubMed ID: 10724 |
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| Beutler E, Kuhl W, Comings D, Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff- Jatzkewitz disease). Am J Hum Genet27:628-38 1975 |
| PubMed ID: 808963 |
| dbSNP |
dbSNP ID: 10339 |
| NCBI GTR |
268800 SANDHOFF DISEASE |
| OMIM |
268800 SANDHOFF DISEASE |
| Omim Description |
GM2-GANGLIOSIDOSIS, TYPE II |
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HEXOSAMINIDASES A AND B DEFICIENCY; HEXB-HEXOSAMINIDASE B, INCLUDED; HEXB, INCLUDED |
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SANDHOFF DISEASE |
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SANDHOFF DISEASE, ADULT TYPE, INCLUDED |
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SANDHOFF DISEASE, INFANTILE TYPE, INCLUDED |
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SANDHOFF DISEASE, JUVENILE TYPE, INCLUDED |
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