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Generation of human pluripotent stem cell lines (WAe009-A) with THAP11F80L cobalamin disorder-associated mutation.

Stem cell research - 1 Sept 2024

Qin Yiren, Godoy-Parejo Carlos, Skowronska Marta, Verma Angela, Dejosez Marion, Zwaka Thomas P

Abstract excerpt

Recent studies reported that the mutation in the THAP11 gene (THAP11F80L) could be responsible for the inborn vitamin deficiency known as cobalamin disorder, by affecting the expression of the enzyme MMACHC, key in the cobalamin metabolism. However, the specifics of the molecular mechanism are largely unknown. In here we generated genetically modified human pluripotent stem cell lines with THAP11F80L mutation,...

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Identifiers

PMID: 38943762
DOI: 10.1016/j.scr.2024.103483

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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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