Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation
oleh: Angélique Terray, Victoire Fort, Amélie Slembrouck, Céline Nanteau, José-Alain Sahel, Sacha Reichman, Isabelle Audo, Olivier Goureau
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2017-12-01 |
Deskripsi
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.