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Stem Cell Res. 2018 Apr;28:141-144. doi: 10.1016/j.scr.2018.02.008. Epub 2018 Feb 16.

Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene.

Author information

1
Department of Molecular Medicine, University of Padova, 35121 Padua, Italy. Electronic address: marta.trevisan@unipd.it.
2
Department of Molecular Medicine, University of Padova, 35121 Padua, Italy.
3
Fondazione Banca degli Occhi del Veneto, 30174 Venice, Italy.

Abstract

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.

PMID:
29477592
DOI:
10.1016/j.scr.2018.02.008
[Indexed for MEDLINE]
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