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

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

doi:10.1016/j.scr.2017.10.007

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

Stem Cell Res. 2017 Dec:25:26-29. doi: 10.1016/j.scr.2017.10.007. Epub 2017 Oct 7.

Authors

Angélique Terray¹, Victoire Fort¹, Amélie Slembrouck¹, Céline Nanteau¹, José-Alain Sahel², Sacha Reichman¹, Isabelle Audo³, Olivier Goureau⁴

Affiliations

¹ Institut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S968, CNRS UMR7210, 75012 Paris, France.
² Institut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S968, CNRS UMR7210, 75012 Paris, France; Centre d'Investigation Clinique 1423, INSERM-Center Hospitalier National d'Ophtalmologie des Quinze-Vingts, 75012 Paris, France; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
³ Institut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S968, CNRS UMR7210, 75012 Paris, France; Centre d'Investigation Clinique 1423, INSERM-Center Hospitalier National d'Ophtalmologie des Quinze-Vingts, 75012 Paris, France.
⁴ Institut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S968, CNRS UMR7210, 75012 Paris, France. Electronic address: olivier.goureau@inserm.fr.

PMID: 29040912
DOI: 10.1016/j.scr.2017.10.007

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Differentiation / genetics
Cell Differentiation / physiology
Eye Proteins / genetics*
Fibroblasts / cytology*
Fibroblasts / metabolism*
Humans
Induced Pluripotent Stem Cells / cytology*
Induced Pluripotent Stem Cells / metabolism*
Mutation / genetics
Retinitis Pigmentosa / metabolism

Substances

Eye Proteins
PRPF31 protein, human