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GM02017 Fibroblast

Description:

HURLER-SCHEIE SYNDROME
ALPHA-L-IDURONIDASE; IDUA

Affected:

No

Sex:

Male

Age:

40 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Carbohydrate Metabolism
Alternate IDs GM17333 [HURLER-SCHEIE SYNDROME]
Cell Type Fibroblast
Transformant Untransformed
Race White
Ethnicity ARABIAN
Family Member 3
Relation to Proband father
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Arab; clinically unaffected father of child, GM01898, with Hurler/Scheie syndrome

Characterizations

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Passage Frozen 9
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
Gene IDUA
Chromosomal Location 4p16.3
Allelic Variant 1 252800.0005; HURLER SYNDROME
Identified Mutation GLY409ARG AND TER654CYS; In a patient with Hurler syndrome in a consanguineous Muslim Arab family in Gaza, Bach et al. (1993) observed homozygosity for an IDUA allele containing 2 amino acid substitutions: a G-to-C transversion in exon 9 converting codon 409 from GGG (gly) to CGG (arg), and an A-to-T transversion in the termination codon 654 (TGA), converting it to a cys (TGT) residue. The cDNA sequence predicted an extension of 38 amino acids before the next termination codon was reached. Both mutations were found in heterozygous form in the DNA of each parent. Expression of cDNA mutagenized at one or both positions showed that gly409-to-arg caused a reduction of less than half the alpha-L-iduronidase activity, whereas the ter-to-cys mutation reduced activity by 98% compared with expression of normal cDNA.

Phenotypic Data

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Remarks Arab; clinically unaffected father of child, GM01898, with Hurler/Scheie syndrome

Publications

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Bach G, Moskowitz SM, Tieu PT, Matynia A, Neufeld EF, Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area American journal of human genetics53:330-8 1993
PubMed ID: 8328452

External Links

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dbSNP dbSNP ID: 10474
Gene Cards IDUA
Gene Ontology GO:0003940 L-iduronidase activity
GO:0005764 lysosome
GO:0005984 disaccharide metabolism
GO:0030203 glycosaminoglycan metabolism
NCBI Gene Gene ID:3425
NCBI GTR 252800 ALPHA-L-IDURONIDASE; IDUA
607015 HURLER-SCHEIE SYNDROME
OMIM 252800 ALPHA-L-IDURONIDASE; IDUA
607015 HURLER-SCHEIE SYNDROME
Omim Description HURLER-SCHEIE SYNDROME

Images

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View pedigree 

Culture Protocols

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Passage Frozen 9
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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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