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 |
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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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|
Family Member
|
2
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Relation to Proband
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mother
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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 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Normal mucopolysaccharide accumulation; positive family history for MPS II; clinically unaffected mother of GM00614 |
| Vargas-López V, Prada LF, Alméciga-Díaz CJ, Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA Scientific reports14:3961 2023 |
| PubMed ID: 38368436 |
| |
| Migeon BR, Sprenkle JA, Liebaers I, Scott JF, Neufeld EF, X-linked Hunter syndrome: the heterozygous phenotype in cell culture. Am J Hum Genet29:448-54 1977 |
| PubMed ID: 409283 |
| 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 |
- |
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