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. 2020 Mar;43:101709.
doi: 10.1016/j.scr.2020.101709. Epub 2020 Jan 16.

Generation of a Human iPSC Line (SDQLCHi021-A) From a Patient With Methylmalonic Acidemia cblC Type Carrying Compound Heterozygous Mutations in MMAHC Gene

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Generation of a Human iPSC Line (SDQLCHi021-A) From a Patient With Methylmalonic Acidemia cblC Type Carrying Compound Heterozygous Mutations in MMAHC Gene

Jingyun Guan et al. Stem Cell Res. .
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Abstract

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.

Conflict of interest statement

Declaration of Competing Interest The authors (Jingyun Guan, Zilong Li, Haiyan Zhang, Xiaomeng Yang, Yanyan Ma, Yue Li, Rui Dong, Zhongtao Gai, Yi Liu,) declared there is no conflict of interest.

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