Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMACHC gene

Publication date: Available online 16 January 2020Source: Stem Cell ResearchAuthor(s): Jingyun Guan, Zilong Li, Haiyan Zhang, Xiaomeng Yang, Yanyan Ma, Yue Li, Rui Dong, Zhongtao Gai, Yi LiuAbstractMethylmalonic acidemia and homocystinuria, cblC type is a rare autosomal recessive inheritance disease. Its clinical phenotype involves multiple systems with varying degrees of severity. The disease is caused by the mutations in the MMACHC gene located on chromosome 1p34.1. Here we report the generation of an iPSC line from the PBMCs of a patient with compound heterozygous mutations in the MMACHC gene. This new iPSC line will allow a better understanding of the MMA disease.
Source: Stem Cell Research - Category: Stem Cells Source Type: research