NA01391
DNA from Fibroblast
Description:
HURLER SYNDROME
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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 |
| Quantity |
10 µg |
| 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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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 |
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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 |
| |
| L-iduronidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.76 |
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| Remarks |
Clinically affected; alpha-L-iduronidase deficiency; unaffected mother (GM01392) and father (GM01393) also in repository. |
| Prince WS, McCormick LM, Wendt DJ, Fitzpatrick PA, Schwartz KL, Aguilera AI, Koppaka V, Christianson TM, Vellard MC, Pavloff N, Lemontt JF, Qin M, Starr CM, Bu G, Zankel TC, Lipoprotein receptor binding, cellular uptake and lysosomal delivery of fusions between the receptor-associated protein (RAP) and alpha-L-iduronidase or acid alpha-glucosidase. J Biol ChemEpub ahead of print: 2004 |
| PubMed ID: 15170390 |
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| Hansell EJ, Frisch SM, Tremble P, Murnane JP, Werb Z, Simian virus 40 transformation alters the actin cytoskeleton, expression of matrix metalloproteinases and inhibitors of metalloproteinases, and invasive behavior of normal and ataxia- telangiectasia human skin fibroblasts. Biochem Cell Biol73:373-89 1995 |
| PubMed ID: 8703410 |
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| Di Natale P, Murino P, Pontarelli G, Salvatore D, Andria G, Sanfilippo B syndrome (MPS III B): altered residual alpha-N- acetylglucosaminidase activity in an unusual sibship. Clin Chim Acta122:135-43 1982 |
| PubMed ID: 6809360 |
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| Tietze F, Butler JD, Elevated cystine levels in cultured skin fibroblasts from patients with I-cell disease. Pediatr Res13:1350-5 1979 |
| PubMed ID: 523195 |
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