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Stem Cell Res. 2019 May 22;38:101468. doi: 10.1016/j.scr.2019.101468. [Epub ahead of print]

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

Author information

1
Fundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, Spain.
2
Fundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, Spain. Electronic address: genetica.riera@imo.es.
3
Fundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Retina, Institut de Microcirurgia Ocular (IMO), Barcelona, Spain.
4
Fundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, Spain. Electronic address: pomares@imo.es.

Abstract

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.

PMID:
31146251
DOI:
10.1016/j.scr.2019.101468
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