Abstract
Niemann-Pick disease type B (NPB) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for acid sphingomyelinase. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a 1-year old male patient with NPB that has a heterozygous mutation of a p.L43_A44delLA of SMPD1 using non-integrating Sendai virus technique. This iPSC line offers a useful resource to study the disease pathophysiology and as a cell-based model for drug development to treat NPB.
Highlights
Niemann-Pick disease type B (NPB) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for acid sphingomyelinase
This human induced pluripotent stem cell (iPSC) line is a useful tool for studies of disease phenotype and pathophysiology, and use as a cell-based disease model for drug development to treat patients with NPB
Niemann-Pick disease type B (NPB) is a rare autosomal recessive, lysosomal storage disease that is caused by mutations in the SMPD1 gene, leading to a deficiency in acid sphingomyelinase in the lysosome of patient cells
Summary
Niemann-Pick disease type B (NPB) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for acid sphingomyelinase. A human induced pluripotent stem cell (iPSC) line TRNDi004-I was established from dermal fibroblasts of a 1-year-old male patient (Table 1).
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