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GM02846 Fibroblast

Description:

HURLER-SCHEIE SYNDROME

Affected:

Yes

Sex:

Female

Age:

14 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 White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; alpha-L-iduronidase deficiency; similarly affected sister; passage 5 when entered repository.

Characterizations

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L-iduronidase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.76
 

Phenotypic Data

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Remarks Clinically affected; alpha-L-iduronidase deficiency; similarly affected sister; passage 5 when entered repository.

Publications

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Makino E, Klodnitsky H, Leonard J, Lillie J, Lund TC, Marshall J, Nietupski J, Orchard PJ, Miller WP, Phaneuf C, Tietz D, Varban ML, Donovan M, Belenki A, Fast, sensitive method for trisaccharide biomarker detection in mucopolysaccharidosis type 1 Scientific reports8:3681 2017
PubMed ID: 29487322

External Links

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dbSNP dbSNP ID: 15746
NCBI GTR 607015 HURLER-SCHEIE SYNDROME
OMIM 607015 HURLER-SCHEIE SYNDROME
Omim Description HURLER-SCHEIE SYNDROME

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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 -
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International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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