Description:
HURLER-SCHEIE 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 |
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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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Race
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White
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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 |
3 |
| |
| 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 |
; HURLER-SCHEIE SYNDROME |
| Identified Mutation |
ALA75THR |
| |
| Gene |
IDUA |
| Chromosomal Location |
4p16.3 |
| Allelic Variant 2 |
; HURLER-SCHEIE SYNDROME |
| Identified Mutation |
PRO496LEU |
| Remarks |
Deficient Alpha-L-Iduronidase; Hurler/ Scheie 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 |
| |
| 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 |
| |
| 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 |
| |
| Ko KW, Storrie B, Targeting of lactoperoxidase to phosphomannosyl-specific receptors on fibroblasts. Cell Biol Int Rep6:1019-24 1982 |
| PubMed ID: 6293725 |
| |
| 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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| Sando GN, Neufeld EF, Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-l- iduronidase, by cultured human fibroblasts. Cell12:619-27 1977 |
| PubMed ID: 922886 |
| Passage Frozen |
3 |
| 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 |
- |
|