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Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi002-A) from a patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Stem cell research - 1 Jun 2023

Zhang Chen, Wang Dongdong, Wang Yu, Sun Ping, Zhao Dandan, Zhao Xiaoyun, Zhao Yuying, Liu Fuchen, Xu Jingwen, Yan Chuanzhu

Abstract excerpt

Mutations in the ETFDH gene, encoding electron transfer flavoprotein dehydrogenase, have been identified to cause riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD) (Wen et al., 2010). We performed the generation and characterization of human induced pluripotent stem cell (iPSC) line from skin fibroblasts of a patient with RR-MADD carrying two heterozygous ETFDH mutations (p.D130V and...

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Identifiers

PMID: 37019029
DOI: 10.1016/j.scr.2023.103067

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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