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

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

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 genera...

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Bibliographic Details
Main Authors: Jingyun Guan, Zilong Li, Haiyan Zhang, Xiaomeng Yang, Yanyan Ma, Yue Li, Rui Dong, Zhongtao Gai, Yi Liu
Format: Article
Language:English
Published: Elsevier 2020-03-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506120300118

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