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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.

Stem cell research - 1 Oct 2022

Huang Wenjun, Zhou Yafei, Wang Jie, Jiang Congshan, Zhang Yanmin, Zhou Rui

Abstract excerpt

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 E888X). Using his parents' peripheral blood mononuclear cells (PBMCs), we here generated two iPSCs lines which...

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PMID: 36240644
DOI: 10.1016/j.scr.2022.102934

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