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 |
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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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| PDL at Freeze |
4.81 |
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| cerebroside-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.8 |
| |
| Remarks |
Infantile type; deficient arylsulfatase A |
| Hossain MA, Hasegawa-Ogawa M, Manome Y, Igarashi M, Wu C, Suzuki K, Igarashi J, Iwamoto T, Okano HJ, Eto Y, Generation and characterization of motor neuron progenitors and motor neurons using metachromatic leukodystrophy-induced pluripotent stem cells Molecular genetics and metabolism reports31:100852 2022 |
| PubMed ID: 35782608 |
| |
| Farrell K, Applegarth DA, Toone JR, McLeod PM, Savage AV, Pseudoarylsulfatase-A deficiency in the neurologically impaired patient. Can J Neurol Sci12:274-7 1985 |
| PubMed ID: 2864994 |
| dbSNP |
dbSNP ID: 14301 |
| 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 |
4 |
| 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 |
| Supplement |
- |
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