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

Publication date: Available online 22 May 2019Source: Stem Cell ResearchAuthor(s): Judit Domingo-Prim, Marina Riera, Anniken Burés-Jelstrup, Borja Corcostegui, Esther PomaresAbstractRetinitis 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.
Source: Stem Cell Research - Category: Stem Cells Source Type: research