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 |
|
Cell Type
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Fibroblast
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|
Transformant
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Untransformed
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|
Race
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White
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Relation to Proband
|
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 |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| L-iduronidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.76 |
| |
| Remarks |
Deficient Alpha-L-Iduronidase; Hurler syndrome |
| Swaroop M1, Brooks MJ2, Gieser L2, Swaroop A2, Zheng W1., Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of Mucopolysaccharidosis I Human Molecular Genetics: 2018 |
| PubMed ID: 30052969 |
| |
| Klintworth GK, Hawkins HK, Smith CF, Acridine orange particles in cultured fibroblasts. A comparative study of macular corneal dystrophy, systemic mucopolysaccharidoses types I-H and II, and normal controls. Arch Pathol Lab Med103:297-9 1979 |
| PubMed ID: 88211 |
| |
| Klintworth GK, Smith CF, Macular corneal dystrophy. Studies of sulfated glycosaminoglycans in corneal explant and confluent stromal cell cultures. Am J Pathol89:167-82 1977 |
| PubMed ID: 143892 |
| Passage Frozen |
4 |
| Split Ratio |
1:5 |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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