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NA00470 DNA from Fibroblast

Description:

SANDHOFF DISEASE

Affected:

Yes

Sex:

Female

Age:

1 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
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
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Ethnicity MEXICAN
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Deficient hexosaminidase A and B; < 1% of normal fibroblast preB-chain mRNA; Hex B gene shows no gross abnormalities; Mexican

Characterizations

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Passage Frozen 11
 

Phenotypic Data

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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

Publications

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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
 
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
 
Hasilik A, Neufeld EF, Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues. J Biol Chem255:4946-50 1980
PubMed ID: 6989822
 
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
 
Willcox P, Secretion of beta-N-acetylglucosaminidase isoenzymes by normal human fibroblasts. Biochem J173:433-9 1978
PubMed ID: 697729
 
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
 
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
 
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
 
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
 
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

External Links

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dbSNP dbSNP ID: 10339
NCBI GTR 268800 SANDHOFF DISEASE
OMIM 268800 SANDHOFF DISEASE
Omim Description GM2-GANGLIOSIDOSIS, TYPE II
  HEXOSAMINIDASES A AND B DEFICIENCY; HEXB-HEXOSAMINIDASE B, INCLUDED; HEXB, INCLUDED
  SANDHOFF DISEASE
  SANDHOFF DISEASE, ADULT TYPE, INCLUDED
  SANDHOFF DISEASE, INFANTILE TYPE, INCLUDED
  SANDHOFF DISEASE, JUVENILE TYPE, INCLUDED
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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