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GM00512 Fibroblast

Description:

HURLER-SCHEIE SYNDROME

Affected:

Yes

Sex:

Female

Age:

15 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Carbohydrate Metabolism
Cell Type Fibroblast
Transformant Untransformed
Race Asiatic Indian
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Deficient Alpha-L-Iduronidase; Hurler/ Scheie syndrome

Characterizations

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Passage Frozen 4
 
L-iduronidase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.76
 
Gene IDUA
Chromosomal Location 4p16.3
Allelic Variant 1 252800.0012; HURLER/SCHEIE SYNDROME
Identified Mutation LEU490PRO; Tieu et al. (1995) demonstrated that the Hurler/Scheie cell line GM 00512 had a T-to-C transition in codon 490, converting leucine (CTG) to proline (CCG), and creating a SmaI site. No alpha-L-iduronidase activity was detected when cDNA containing the L490P mutation was expressed in COS-1 cells. There was no evidence for heterozygosity either in the genomic sequence or in the restriction digest, suggesting that the mutation was present in homozygous form. However, hemizygosity, because of either deletion of the IDUA gene on 1 chromosome or uniparental disomy, had not been ruled out. The GM 00512 cell line was derived from a patient of Asian Indian origin, whose parents were not known to be consanguineous. Homozygosity had been observed previously only in consanguineous families or for the most common mutations, W402X (252800.0001) and Q70X (252800.0002). It is therefore possible that the L490P mutation is relatively common among Indian MPSI patients.
 
Gene IDUA
Chromosomal Location 4p16.3
Allelic Variant 2 252800.0012; HURLER/SCHEIE SYNDROME
Identified Mutation LEU490PRO; Tieu et al. (1995) demonstrated that the Hurler/Scheie cell line GM 00512 had a T-to-C transition in codon 490, converting leucine (CTG) to proline (CCG), and creating a SmaI site. No alpha-L-iduronidase activity was detected when cDNA containing the L490P mutation was expressed in COS-1 cells. There was no evidence for heterozygosity either in the genomic sequence or in the restriction digest, suggesting that the mutation was present in homozygous form. However, hemizygosity, because of either deletion of the IDUA gene on 1 chromosome or uniparental disomy, had not been ruled out. The GM 00512 cell line was derived from a patient of Asian Indian origin, whose parents were not known to be consanguineous. Homozygosity had been observed previously only in consanguineous families or for the most common mutations, W402X (252800.0001) and Q70X (252800.0002). It is therefore possible that the L490P mutation is relatively common among Indian MPSI patients.

Phenotypic Data

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Remarks Deficient Alpha-L-Iduronidase; Hurler/ Scheie syndrome

Publications

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Tieu PT, Bach G, Matynia A, Hwang M, Neufeld EF, Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S) Human mutation6:55-9 1995
PubMed ID: 7550232

External Links

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dbSNP dbSNP ID: 16051
NCBI GTR 607015 HURLER-SCHEIE SYNDROME
OMIM 607015 HURLER-SCHEIE SYNDROME
Omim Description HURLER-SCHEIE SYNDROME

Culture Protocols

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Passage Frozen 4
Split Ratio 1:3
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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