Article
Generation of an isogenic human induced pluripotent stem cell line with a mutant propionyl-CoA carboxylase α subunit.
Orphanet journal of rare diseases - 23 Jan 2026
Tao Tianqi, Lin Liwen, Tang Yanyan, Liu Zhenyao, Liu Yu, Xie Yongfang, Hu Xiaohang, Wang Jianli, Wang Tonghe, Zhang Guo-Fang, Wang You, Zhu Suhong
Abstract excerpt
BACKGROUND: Propionic acidemia (PA) is a rare autosomal recessive metabolic disorder caused by defects in propionyl-CoA carboxylase (PCC), a mitochondrial enzyme composed of six alpha (PCCA) and six beta (PCCB) subunits. Mutations in PCCA/PCCB genes disrupt PCC function, leading to toxic metabolite accumulation and clinical manifestations. Current research is limited by inadequate patient-derived cellular models...
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