A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene
oleh: Yu-Shan Cheng, Rong Li, Amanda Baskfield, Jeanette Beers, Jizhong Zou, Chengyu Liu, Wei Zheng
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2019-05-01 |
Deskripsi
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.