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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

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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Detalles Bibliográficos
Autores principales:	Cheng, Yu-Shan, Li, Rong, Baskfield, Amanda, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Zheng, Wei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658133/ https://www.ncbi.nlm.nih.gov/pubmed/31026687 http://dx.doi.org/10.1016/j.scr.2019.101435

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