标题：Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC gene
作者：Guan, Jingyun; Li, Zilong; Zhang, Haiyan; Yang, Xiaomeng; Ma, Yanyan; Li, Yue; Dong, Rui; Gai, Zhongtao; Liu, Yi
作者机构：[Guan, Jingyun; Li, Zilong; Zhang, Haiyan; Yang, Xiaomeng; Ma, Yanyan; Li, Yue; Dong, Rui; Gai, Zhongtao; Liu, Yi] Shandong Univ, Qilu Childrens Hosp, 更多
通讯作者地址：Gai, ZT; Liu, Y (corresponding author), Shandong Univ, Qilu Childrens Hosp, Pediat Res Inst, Jinan 250022, Shandong, Peoples R China.
来源：STEM CELL RESEARCH
摘要：Methylmalonic 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.