Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation

从具有显性 PRPF31 突变的无症状患者的真皮成纤维细胞建立诱导性多能干细胞 (iPS) 系

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作者:Angélique Terray, Victoire Fort, Amélie Slembrouck, Céline Nanteau, José-Alain Sahel, Sacha Reichman, Isabelle Audo, Olivier Goureau

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.

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