Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene

Human iPSC line L749.1 was generated from fibroblasts of a patient with Leigh syndrome associated with a heteroplasmic mutation in the MT-ATP6 gene. Reprogramming factors OCT4, SOX2, CMYC and KLF4 were delivered using retroviruses.
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” (FIS PI10/0703 and PI13/00556 to RG and PI15/00484 to MEG cofunded by FEDER), “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 senior staff scientist at the “Centro de Investigación Biomédica en Red en Enfermedades Raras” (CIBERER).