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

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 sy...

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Bibliographic Details
Published in:Stem cell research 2019-07, Vol.38, p.101468-101468, Article 101468
Main Authors: Domingo-Prim, Judit, Riera, Marina, Burés-Jelstrup, Anniken, Corcostegui, Borja, Pomares, Esther
Format: Article
Language:English
Subjects:
Adult
Cell Line
Cellular Reprogramming Techniques
Female
Fibroblasts - metabolism
Fibroblasts - pathology
Genes, Dominant
Humans
Induced Pluripotent Stem Cells - metabolism
Induced Pluripotent Stem Cells - pathology
Point Mutation
Retinitis Pigmentosa - genetics
Retinitis Pigmentosa - metabolism
Retinitis Pigmentosa - pathology
Sensory Rhodopsins - genetics
Sensory Rhodopsins - metabolism
Skin - metabolism
Skin - pathology
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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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2019.101468