Terray, A;
Slembrouck, A;
Nanteau, C;
Chondroyer, C;
Zeitz, C;
Sahel, J-A;
Audo, I;
... Goureau, O; + view all
(2017)
Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.
Stem Cell Res
, 24
pp. 1-4.
10.1016/j.scr.2017.08.003.
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Abstract
A human iPSC line was generated from fibroblasts of a patient affected with autosomal dominant Retinitis Pigmentosa (RP) carrying the mutation p.Gly56Arg in the NR2E3 gene. The transgene-free iPSCs were generated with the human OSKM transcription factors using the Sendai-virus reprogramming system. iPSCs contained the expected c.166G>A substitution in exon 2 of NR2E3, expressed the expected pluripotency markers, displayed in vivo differentiation potential to the three germ layers and had normal karyotype. This cellular model will provide a powerful tool to study the pathogenesis of NR2E3-associated RP. Resource table.
| Type: | Article |
|---|---|
| Title: | Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene. |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.scr.2017.08.003 |
| Publisher version: | https://doi.org/10.1016/j.scr.2017.08.003 |
| Language: | English |
| Additional information: | © 2017 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/) |
| Keywords: | Cell Differentiation, Female, Humans, Induced Pluripotent Stem Cells, Middle Aged, Mutation, Orphan Nuclear Receptors, Retinitis Pigmentosa |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10054223 |
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