Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene
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...
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doaj-8f4ee27df52447488f19c9bbfe48686b2020-11-24T22:15:05ZengElsevierStem Cell Research1873-50612018-04-0128141144Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 geneMarta Trevisan0Enzo Di Iorio1Giulia Masi2Silvia Riccetti3Luisa Barzon4Gualtiero Alvisi5Luciana Caenazzo6Vanessa Barbaro7Giorgio Palù8Department of Molecular Medicine, University of Padova, 35121 Padua, Italy; Corresponding author.Department of Molecular Medicine, University of Padova, 35121 Padua, ItalyDepartment of Molecular Medicine, University of Padova, 35121 Padua, ItalyDepartment of Molecular Medicine, University of Padova, 35121 Padua, ItalyDepartment of Molecular Medicine, University of Padova, 35121 Padua, ItalyDepartment of Molecular Medicine, University of Padova, 35121 Padua, ItalyDepartment of Molecular Medicine, University of Padova, 35121 Padua, ItalyFondazione Banca degli Occhi del Veneto, 30174 Venice, ItalyDepartment of Molecular Medicine, University of Padova, 35121 Padua, ItalyOral 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.http://www.sciencedirect.com/science/article/pii/S1873506118300527 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Marta Trevisan Enzo Di Iorio Giulia Masi Silvia Riccetti Luisa Barzon Gualtiero Alvisi Luciana Caenazzo Vanessa Barbaro Giorgio Palù |
spellingShingle |
Marta Trevisan Enzo Di Iorio Giulia Masi Silvia Riccetti Luisa Barzon Gualtiero Alvisi Luciana Caenazzo Vanessa Barbaro Giorgio Palù Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene Stem Cell Research |
author_facet |
Marta Trevisan Enzo Di Iorio Giulia Masi Silvia Riccetti Luisa Barzon Gualtiero Alvisi Luciana Caenazzo Vanessa Barbaro Giorgio Palù |
author_sort |
Marta Trevisan |
title |
Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene |
title_short |
Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene |
title_full |
Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene |
title_fullStr |
Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene |
title_full_unstemmed |
Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene |
title_sort |
induced pluripotent stem cells line (unipdi003-a) from a patient affected by eec syndrome carrying the r279h mutation in tp63 gene |
publisher |
Elsevier |
series |
Stem Cell Research |
issn |
1873-5061 |
publishDate |
2018-04-01 |
description |
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. |
url |
http://www.sciencedirect.com/science/article/pii/S1873506118300527 |
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