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Generation of an induced pluripotent stem cell line (BCHNCi003-A) from a patient with mitochondrial pyruvate carrier deficiency caused by biallelic MPC1 mutations.

Stem cell research - 1 Oct 2023

Jiang Huafang, Xu Chaolong, Li Wenyan, Zhou Ling, Fang Fang

Abstract excerpt

Mitochondrial pyruvate carrier deficiency (MPYCD) is a rare mitochondrial disease characterized by developmental delay, microcephaly, growth failure, increased serum lactate with a normal lactate/pyruvate ratio. Mutations in the MPC1 gene have been identified to cause MPYCD. Herein, we generated an induced pluripotent stem cell (iPSC) line from the skin fibroblasts of a patient with MPYCD, carrying biallelic...

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Identifiers

PMID: 37769383
DOI: 10.1016/j.scr.2023.103206

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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