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; Zilong Li; Haiyan Zhang; Xiaomeng Yang; Yanyan Ma; Yue Li; Rui Dong; Zhongtao Gai; Yi Liu

doi:10.1016/j.scr.2020.101709

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

Stem Cell Res. 2020 Mar:43:101709. doi: 10.1016/j.scr.2020.101709. Epub 2020 Jan 16.

Authors

Jingyun Guan¹, Zilong Li¹, Haiyan Zhang¹, Xiaomeng Yang¹, Yanyan Ma¹, Yue Li¹, Rui Dong¹, Zhongtao Gai², Yi Liu³

Affiliations

¹ Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong, 250022, China.
² Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong, 250022, China. Electronic address: gaizhongtao@sina.com.
³ Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong, 250022, China. Electronic address: y_liu99@sina.com.

PMID: 32058304
DOI: 10.1016/j.scr.2020.101709

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Amino Acid Metabolism, Inborn Errors / genetics*
Animals
Heterozygote
Homocystinuria / genetics*
Humans
Induced Pluripotent Stem Cells / metabolism*
Male
Mutation
Oxidoreductases / genetics*

Substances

MMACHC protein, human
Oxidoreductases

Supplementary concepts

Methylmalonic acidemia