Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease

Pompe disease results from GAA mutations that leads to lysosomal glycogen accumulation and cardiac and skeletal muscle pathology. We have previously generated an infantile-onset Pompe disease patient-derived human-induced pluripotent stem cells (iPSCs) line carrying compound GAA mutations (R608X and...

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Những tác giả chính: Wenjun Huang, Yafei Zhou, Jie Wang, Congshan Jiang, Yanmin Zhang, Rui Zhou
Định dạng: Bài viết
Ngôn ngữ:English
Được phát hành: Elsevier 2022-10-01
Loạt:Stem Cell Research
Truy cập trực tuyến:http://www.sciencedirect.com/science/article/pii/S1873506122002835