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Article

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

Stem cell research - 1 Apr 2018

Trevisan Marta, Di Iorio Enzo, Masi Giulia, Riccetti Silvia, Barzon Luisa, Alvisi Gualtiero, Caenazzo Luciana, Barbaro Vanessa, Palù Giorgio

Abstract excerpt

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...

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Identifiers

PMID: 29477592
DOI: 10.1016/j.scr.2018.02.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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