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 |
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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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| Passage Frozen |
11 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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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; 7% activity. |
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| Remarks |
7% of normal sphingomyelinase activity, deficient phospholipase C activity, and increased cholesterol biosynthesis 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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| Cheifetz S, Ling N, Guillemin R, Massague J, A surface component on GH3 pituitary cells that recognizes transforming growth factor-beta, activin, and inhibin. J Biol Chem263:17225-8 1988 |
| PubMed ID: 2903159 |
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| Pentchev PG, Comly ME, Kruth HS, Patel S, Proestel M, Weintroub H, The cholesterol storage disorder of the mutant BALB/c mouse. A primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease. J Biol Chem261:2772-7 1986 |
| PubMed ID: 3949747 |
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| Massague J, Subunit structure of a high-affinity receptor for type beta- transforming growth factor. Evidence for a disulfide-linked glycosylated receptor complex. J Biol Chem260:7059-66 1985 |
| PubMed ID: 2987240 |
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| Burstein S, Hunter SA, Renzulli L, Stimulation of sphingomyelin hydrolysis by cannabidiol in fibroblasts from a Niemann-Pick patient. Biochem Biophys Res Commun121:168-73 1984 |
| PubMed ID: 6732800 |
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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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| Maziere JC, Maziere C, Gardette J, Mora L, Polonovski J, Changes in cholesterol metabolism in cultured fibroblasts from patients with Niemann-Pick disease. Biochem Biophys Res Commun102:113-8 1981 |
| PubMed ID: 6272787 |
| Passage Frozen |
11 |
| Split Ratio |
1:4 |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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