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 |
| Alternate IDs |
GM17072 [METACHROMATIC LEUKODYSTROPHY] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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PUERTO RICAN
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Relation to Proband
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parent
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| IMMUNOGLOBULIN PRODUCTION |
Lymphoid Culture Produces IgG4 |
| |
| cerebroside-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.8 |
| |
| Remarks |
Clinically unaffected mother of a child with infantile MLD; reduced activity of arylsulfatase A; produces IgG4; proband not in Repository; Puerto Rican |
| Raymond CK, Kas A, Paddock M, Qiu R, Zhou Y, Subramanian S, Chang J, Palmieri A, Haugen E, Kaul R, Olson MV, Ancient haplotypes of the HLA Class II region Genome research15:1250-7 2005 |
| PubMed ID: 16140993 |
| |
| Kaplan DR, Henkel TJ, Braciale V, Braciale TJ, Mycoplasma infection of cell cultures: thymidine incorporation of culture supernatants as a screening test. J Immunol132:9-11 1984 |
| PubMed ID: 6361127 |
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| Shipp MA, Schwartz BD, Kannapell CC, Griffith RC, Scott MG, Ahmed P, Davie JM, Nahm MH, A unique DR-related B cell differentiation antigen. J Immunol131:2458-67 1983 |
| PubMed ID: 6415171 |
| |
| Simmons JG, Fuller CR, Buchanan PD, Yount WJ, Distribution of surface, cytoplasmic and secreted IgG subclasses in human lymphoblastoid cell lines and normal peripheral blood lymphocytes. Scand J Immunol14:1-13 1981 |
| PubMed ID: 7313555 |
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| Yount WJ, Fuller CR, Simmons JG, Distribution of IgG subclasses in human B lymphocytes: evidence for dual expression of subclasses in surface and cytoplasmic IgG in minor B lymphocyte subpopulations. J Immunol124:431-6 1980 |
| PubMed ID: 6965297 |
| dbSNP |
dbSNP ID: 10376 |
| 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 |
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