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)
Summary
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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Zhang Z, Si N, Pan B, Jiang H |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Aug;55:102437 |
| PubMed | 34247110 |
| DOI | 10.1016/j.scr.2021.102437 |