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

Amanda Baskfield,Rong Li,Jeanette Beers,Jizhong Zou,Chengyu Liu,Wei Zheng

doi:10.1016/j.scr.2019.101461

Abstract

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.

Highlights

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
Niemann-Pick disease type A (NPA) is a rare autosomal recessive, neuropathic lysosomal storage disease that is caused by mutations in the SMPD1 gene, leading to a deficiency in acid sphingomyelinase (< 10% enzyme activity) in the cells (Schuchman and Wasserstein, 2015)
The cells were maintained at 5% CO2, 5% O2 at 37 °C and were passaged with 0.5 mM ethylenediaminetetraacetic acid (EDTA) when colonies were approximately 70% confluent

Summary

Introduction

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. *Corresponding author at: National Center for Advancing Translational Sciences, National Institutes of Health, 9800 Medical Center Drive, Bethesda, MD 20892, USA., Wei.Zheng@nih.gov Clonal Integration-free Sendai viral vectors NO N/A Niemann-Pick disease Type A (NPA) Gene: SMPD1 Locus: 11p15.4 Mutation: p.

Results

Conclusion