A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene

Yu-Shan Cheng,Rong Li,Amanda Baskfield,Jeanette Beers,Jizhong Zou,Chengyu Liu,Wei Zheng

doi:10.1016/j.scr.2019.101435

Abstract

Pompe disease is an autosomal inherent genetic disease caused by mutations in the GAA gene that encodes acid alpha-glucosidase. The disease affects patients in heart, skeletal muscles, liver, and central nervous system. A human induced pluripotent stem cell (iPSC) line was generated from the skin dermal fibroblasts of a Pompe patient with homozygosity for a c.2560C > T (p.R854X) mutation in exon 18 of the GAA gene. This human iPSC line provides a useful resource for disease modeling and drug discovery.

Highlights

Pompe disease is an autosomal inherent genetic disease caused by mutations in the GAA gene that encodes acid alpha-glucosidase
This human induced pluripotent stem cell line is a useful tool for studying disease pathophysiology and as a cell-based disease model for drug development to treat Pompe disease
Known as glycogen storage disease type II, is a rare autosomal recessive disorder caused by mutations in the GAA gene that results in a deficiency of lysosomal acid α-glucosidase (GAA)

Summary

Introduction

Pompe disease is an autosomal inherent genetic disease caused by mutations in the GAA gene that encodes acid alpha-glucosidase. We generated a human iPSC line (TRNDi007-B) from patient skin fibroblasts (GM00248) which was isolated from a five-month-old male patient carrying a homozygous mutation (c.2560C > T, p.R854X) in exon 18 of the GAA gene. Patient fibroblasts were reprogramed into iPSC by transduction a set of non-integrating Sendai virus vectors encoding OCT3/4, KLF4, S0X2 and C-MYC genes (Beers et al, 2015).

Results

Conclusion