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 de...

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Published inStem cell research Vol. 37; p. 101435
Main Authors Cheng, Yu-Shan, Li, Rong, Baskfield, Amanda, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Zheng, Wei
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.05.2019
Elsevier
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Summary: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.
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ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2019.101435