Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene

Summary

Retinitis pigmentosa (RP) is an inherited retinal dystrophy characterized by the progressive degeneration of photoreceptors. In the present study, we have generated an induced pluripotent stem cell (iPSC) line derived from a RP patient with a dominant mutation in the RHO gene, responsible for the synthesis of rhodopsin. The reprogramming of these iPSCs was performed from skin fibroblasts by the Sendai-virus based approach. Characterization of the iPSC line showed a normal karyotype carrying the RHO mutation, expressed pluripotency markers and could be differentiated to endoderm, mesoderm and ectoderm in vitro. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Domingo-Prim J, Riera M, Burés-Jelstrup A, Corcostegui B, Pomares E
Journal Stem cell research
Publication Date 2019 May 22;38:101468
PubMed 31146251
DOI 10.1016/j.scr.2019.101468

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