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Generation of a human induced pluripotent stem cell line (PSHi002-A) from a Treacher-Collins syndrome patient carrying a TCOF1 gene mutation (c.1966_1969dup).

Stem cell research - 1 Aug 2021

Zhang Zeya, Si Nuo, Pan Bo, Jiang Haiyue

Abstract excerpt

Mutations of the Treacle Ribosome Biogenesis Factor 1 (TCOF1) gene can lead to Treacher Collins syndrome (TCS). In present study, the peripheral blood mononuclear cells (PBMCs) of a 33-year-old male TCS patient with the heterozygous TCOF1 mutation c.1966_1969dup (p.Ser657Trpfs*25) were reprogrammed into induced pluripotent stem cells (iPSCs) named PSHi002-A through episomal plasmids encoding hOCT4, hSOX2, hNANOG,...

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Identifiers

PMID: 34247110
DOI: 10.1016/j.scr.2021.102437

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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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