Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene

Human iPSC line Oex2054SV.4 was generated from fibroblasts of a patient with an optic atrophy 'plus' phenotype associated with a heterozygous mutation in the OPA1 gene. Reprogramming factors OCT3/4, SOX2, CMYC and KLF4 were delivered using a non-integrative methodology that involves the use of Sendai virus.
This work was supported by grants from the “Centro de Investigación Biomédica en Red en enfermedades raras” (CIBERER) (Grant 13-717/132.05 to RG), the “Instituto de Salud Carlos III” [Fondo de Investigación Sanitaria and European Regional Development Fund (ERDF/FEDER) funds PI10/0703 and PI13/00556 to RG and PI15/00484 to MEG], “Comunidad Autónoma de Madrid” (grant number S2010/BMD-2402 to R.G); T.G-M. receives grant support from the Universidad Autónoma de Madrid, FPI-UAM and F.Z-D from the Ministerio de Educación, Cultura y Deporte, grant number FPU13/00544. M.E.G. is staff scientist at the “Centro de Investigación Biomédica en Red en Enfermedades Raras” (CIBERER).