NA11097
DNA from Fibroblast
Description:
NIEMANN-PICK DISEASE, TYPE B
SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1
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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 |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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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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Not Reported
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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 |
4 |
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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 |
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| Gene |
SMPD1 |
| Chromosomal Location |
11p15.4-p15.1 |
| Allelic Variant 1 |
p.L43_A44delA; NIEMANN-PICK DISEASE, TYPE A |
| Identified Mutation |
p.L43_A44delLA |
| Remarks |
Hepatosplenomegaly; small umbilical hernia; foam cells in bone marrow; fibroblasts show a deficiency of sphingomyelinase activity; type B; tested and negative for the three most common mutations in SMPD1, i.e., R496L (607608.0001), L302P (607608.0010), and P330fsX382 (607608.0011); has a heterozygous mutation in the SMFD1 gene: p.L43_A44delLA. |
| Baskfield A, Li R, Beers J, Zou J, Liu C, Zheng W, Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of pL43_A44delLA in the SMPD1 gene Stem cell research37:101436 2019 |
| PubMed ID: 31009819 |
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| Lee CY, Lesimple A, Denis M, Vincent J, Larsen A, Mamer O, Krimbou L, Genest J, Marcil M, Increased sphingomyelin content impairs HDL biogenesis and maturation in human Niemann-Pick disease type B Journal of lipid research47:622-32 2005 |
| PubMed ID: 16319418 |
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