An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous p.L302P (c.905 T>C) mutation in the SMPD1 gene
Summary
Niemann-Pick disease type A (NPA) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for the protein acid sphingomyelinase. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a 21-fetal-week-old female patient with NPA that has a heterozygous mutation of a p.L302P variant (c.905 T > C) 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 NPA. 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 Jul;38:101461 |
| PubMed | 31132580 |
| PubMed Central | PMC6686851 |
| DOI | 10.1016/j.scr.2019.101461 |