NA00406
DNA from Fibroblast
Description:
NIEMANN-PICK DISEASE, TYPE A
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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 |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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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| Passage Frozen |
9 |
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| sphingomyelin phosphodiesterase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.4.12; 8% activity. |
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| Remarks |
8% of normal sphingomyelinase activity & deficient phospholipase C activity in fibroblasts; type A; tested and negative for the three most common mutations in SMPD1, i.e., R496L (607608.0001), L302P (607608.0010), and P330fsX382 (607608.0011). |
| Levran O, Desnick RJ, Schuchman EH, Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. Proc Natl Acad Sci U S A88:3748-52 1991 |
| PubMed ID: 2023926 |
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| Takada G, Satoh W, Komatsu K, Konn Y, Miura Y, Uesaka Y, Transitory type of sphingomyelinase deficient Niemann-Pick disease: clinical and morphological studies and follow-up of two sisters. Tohoku J Exp Med153:27-36 1987 |
| PubMed ID: 2823414 |
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| Beaudet AL, Manschreck AA, Metabolism of sphingomyelin by intact cultured fibroblasts: differentiation of Niemann-Pick disease type A and B. Biochem Biophys Res Commun105:14-9 1982 |
| PubMed ID: 7092849 |
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| Maziere JC, Maziere C, Mora L, Routier JD, Polonovski J, In situ degradation of sphingomyelin by cultured normal fibroblasts and fibroblasts from patients with Niemann-Pick disease type A and C. Biochem Biophys Res Commun108:1101-6 1982 |
| PubMed ID: 7181884 |
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| Gal AE, Brady RO, Hibbert SR, Pentchev PG, A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease. N Engl J Med293:632-6 1975 |
| PubMed ID: 239343 |
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