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 |
| 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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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Biochemical characterization before cell line submission to CCR
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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 LINE assay |
| |
| Remarks |
Clinically affected; 1.5 nmoles/mg/hr arylsulfatase A activity; affected twin brother; both parents and unaffected younger brother have carrier levels of ASA |
| Hong X, Kumar AB, Daiker J, Yi F, Sadilek M, De Mattia F, Fumagalli F, Calbi V, Damiano R, Bona MD, la Marca G, Vanderver AL, Waldman AT, Adang L, Sherbini O, Woidill S, Suhr T, Kurtzberg J, Beltran-Quintero ML, Escolar M, Aiuti A, Gelb MH, Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry Analytical chemistry: 2020 |
| PubMed ID: 31922725 |
| 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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