Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene


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. Published by Elsevier B.V.

Authors Baskfield A, Li R, Beers J, Zou J, Liu C, Zheng W
Journal Stem cell research
Publication Date 2019 May;37:101436
PubMed 31009819
PubMed Central PMC6643268
DOI 10.1016/j.scr.2019.101436

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