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


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. Published by Elsevier B.V.

Authors Cheng YS, Li R, Baskfield A, Beers J, Zou J, Liu C, Zheng W
Journal Stem cell research
Publication Date 2019 May;37:101435
PubMed 31026687
PubMed Central PMC6658133
DOI 10.1016/j.scr.2019.101435

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