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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Family Member
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4
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Relation to Proband
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brother
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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 |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
46,XY; carrier level of arylsulfatase A; clinically unaffected; 3 sibs have infantile MLD |
| Corcelle-Termeau E, Vindeløv SD, Hämälistö S, Mograbi B, Keldsbo A, Bräsen JH, Favaro E, Adam D, Szyniarowski P, Hofman P, Krautwald S, Farkas T, Petersen NH, Rohde M, Linkermann A, Jäättelä M, Excess sphingomyelin disturbs ATG9A trafficking and autophagosome closure Autophagy12:833-49 2016 |
| PubMed ID: 27070082 |
| |
| So EY, Ausman M, Saeki T, Ouchi T, Phosphorylation of SMC1 by ATR is required for desferrioxamine (DFO)-induced apoptosis Cell death & disease2:e128 2011 |
| PubMed ID: 21390062 |
| |
| Stokes MP, Rush J, Macneill J, Ren JM, Sprott K, Nardone J, Yang V, Beausoleil SA, Gygi SP, Livingstone M, Zhang H, Polakiewicz RD, Comb MJ, Profiling of UV-induced ATM/ATR signaling pathways Proceedings of the National Academy of Sciences of the United States of America104:19855-60 2007 |
| PubMed ID: 18077418 |
| dbSNP |
dbSNP ID: 19570 |
| 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 |
1:3 |
| 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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