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
oleh: Angélique Terray, Amélie Slembrouck, Céline Nanteau, Christel Chondroyer, Christina Zeitz, José-Alain Sahel, Isabelle Audo, Sacha Reichman, Olivier Goureau
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2017-10-01 |
Deskripsi
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.