Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene
Summary
Oral mucosa epithelial stem cells from a patient affected by Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome carrying the R279H mutation in the TP63 gene were reprogrammed into human induced pluripotent stem cells (hiPSCs) with episomal vectors. The generated UNIPDi003-A-hPSC line retained the mutation of the parental cells and showed a normal karyotype upon long term culture. Analysis of residual transgenes expression showed that the episomal vectors were eliminated from the cell line. UNIPDi003-A-hiPSCs expressed the undifferentiated state marker alkaline phosphatase along with a panel of pluripotency markers, and formed embryoid bodies capable of expressing markers belonging to all the three germ layers. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Trevisan M, Di Iorio E, Masi G, Riccetti S, Barzon L, Alvisi G, Caenazzo L, Barbaro V, Palù G |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2018 Apr;28:141-144 |
| PubMed | 29477592 |
| DOI | 10.1016/j.scr.2018.02.008 |