Description:
METACHROMATIC LEUKODYSTROPHY
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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 Lipid 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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|
Family Member
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3
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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 |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Adult type; 14 to 29% of control fibroblast arylsulfatase A activity |
| Xu M, Liu K, Swaroop M, Sun W, Dehdashti SJ, McKew JC, Zheng W, A phenotypic compound screening assay for lysosomal storage diseases Journal of biomolecular screening19:168-75 2013 |
| PubMed ID: 23983233 |
| dbSNP |
dbSNP ID: 14258 |
| NCBI GTR |
250100 METACHROMATIC LEUKODYSTROPHY; MLD |
| OMIM |
250100 METACHROMATIC LEUKODYSTROPHY; MLD |
| Omim Description |
ARYLSULFATASE A DEFICIENCY; ARSA DEFICIENCY |
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CEREBRAL SCLEROSIS, DIFFUSE, METACHROMATIC FORM |
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CEREBROSIDE SULFATASE DEFICIENCYARYLSULFATASE A, INCLUDED; ARSA, INCLUDED |
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METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED |
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METACHROMATIC LEUKODYSTROPHY, JUVENILE, INCLUDED |
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METACHROMATIC LEUKODYSTROPHY, LATE-INFANTILE |
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METACHROMATIC LEUKOENCEPHALOPATHY |
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MLD |
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PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED |
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SULFATIDE LIPIDOSIS |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| 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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