Description:
MUCOPOLYSACCHARIDOSIS TYPE II
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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
|
|
Race
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White
|
|
Ethnicity
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ITALIAN
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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 |
8 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically affected; severe MPS2; excessive mucopolysaccharide accumulation which is correctable by Hunter factor.
|
| Hong J, Cheng YS, Yang S, Swaroop M, Xu M, Beers J, Zou J, Huang W, Marugan JJ, Cai X, Zheng W, iPS-derived neural stem cells for disease modeling and evaluation of therapeutics for mucopolysaccharidosis type II Experimental cell research412:113007 2021 |
| PubMed ID: 34990619 |
| Passage Frozen |
8 |
| Split Ratio |
1:5 |
| 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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