Article

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

2025-04-01

Abstract excerpt

<title>Abstract</title> <p> 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 <italic>PCCA/PCCB</italic> genes disrupt PCC function, leading to toxic metabolite accumulation and clinical manifestations. Current research is limite...

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Literature Corpus work: 58cfde6f-d150-5775-b73f-e74088578bf2
DOI: 10.21203/rs.3.rs-6110698/v1

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