Terray, A;
Fort, V;
Slembrouck, A;
Nanteau, C;
Sahel, JA;
Reichman, S;
Audo, I;
(2017)
Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation.
Stem Cell Research
, 25
pp. 26-29.
10.1016/j.scr.2017.10.007.
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Abstract
A human iPS cell line was generated from fibroblasts of a phenotypically unaffected patient from a family with PRPF31-associated retinitis pigmentosa (RP). The transgene-free iPS cells were generated with the human OSKM transcription factors using the Sendai-virus reprogramming system. iPS cells contained the expected c.709-734dup substitution in exon 8 of PRPF31, 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 unusual pattern of inheritance of PRPF31-associated RP.
| Type: | Article |
|---|---|
| Title: | Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.scr.2017.10.007 |
| Publisher version: | https://doi.org/10.1016/j.scr.2017.10.007 |
| 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/). |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10053708 |
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