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Generation of an isogenic human induced pluripotent stem cell line with a mutant propionyl-CoA carboxylase α subunit

Abstract 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 met...

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Principais autores: Tianqi Tao, Liwen Lin, Yanyan Tang, Zhenyao Liu, Yu Liu, Yongfang Xie, Xiaohang Hu, Jianli Wang, Tonghe Wang, Guo-Fang Zhang, You Wang, Suhong Zhu
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2026-01-01
Serier:Orphanet Journal of Rare Diseases
Fag:
Propionic acidemia (PA)
Propionyl-CoA carboxylase (PCC)
Induced pluripotent stem cells (iPSCs)
CRISPR/cas9
Online adgang:https://doi.org/10.1186/s13023-026-04197-6
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