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


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. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Terray A, Fort V, Slembrouck A, Nanteau C, Sahel JA, Reichman S, Audo I, Goureau O
Journal Stem cell research
Publication Date 2017 Dec;25:26-29
PubMed 29040912
DOI 10.1016/j.scr.2017.10.007

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