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

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.

SUBMITTER: Cheng YS

PROVIDER: S-EPMC6658133 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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

Cheng Yu-Shan YS Li Rong R Baskfield Amanda A Beers Jeanette J Zou Jizhong J Liu Chengyu C Zheng Wei W

Stem cell research 20190411

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 dis ...[more]

PMID: 31026687

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