Article
Generation of induced pluripotent stem cells named SMBCi019-A from a methylmalonic acidemia patient carrying the MMACHC mutations.
Stem cell research - 1 Jul 2022
Luan Jing, Zou Hui, Cui Yazhou, Wang Jing, Han Zhenzhong, Zhang Genglin, Han Jinxiang
Abstract excerpt
Methylmalonic acidemia(MMA) is an autosomal recessive hereditary disease caused by methylmalonyl-CoA mutase defect or its coenzyme cobalamin metabolism defect. The mutation of the MMACHC gene leads to metabolic disorder of coenzyme cobalamin, resulting in abnormal accumulation of methylmalonic acid, and finally leads to impairment of multiple organs' functions. Here we generated an induced pluripotent stem cells...
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