Journal
STEM CELL RESEARCH
Volume 55, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2021.102437
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Funding
- CAMS plastic surgeryhospital [YS202003]
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In this study, peripheral blood mononuclear cells (PBMCs) from a 33-year-old TCS patient with a heterozygous TCOF1 mutation were reprogrammed into induced pluripotent stem cells (iPSCs) named PSHi002-A. These iPSCs expressed pluripotent markers, had a normal karyotype, and could be differentiated into the three germ layers in vivo.
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, hLIN28, hKLF4, and hL-MYC. The established iPSC line expressed pluripotent markers, had a normal karyotype (46, XY), and can be differentiated into the three germ layers in vivo.
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