TY - JOUR T1 - Mitochondrial replacement in an iPSC model of Leber’s hereditary optic neuropathy JF - bioRxiv DO - 10.1101/120659 SP - 120659 AU - Raymond C.B. Wong AU - Shiang Y. Lim AU - Sandy S.C. Hung AU - Stacey Jackson AU - Shahnaz Khan AU - Nicole J. Van Bergen AU - Elisabeth De Smit AU - Helena H. Liang AU - Lisa S Kearns AU - Linda Clarke AU - David A. Mackey AU - Alex W. Hewitt AU - Ian A. Trounce AU - Alice Pébay Y1 - 2017/01/01 UR - http://biorxiv.org/content/early/2017/03/26/120659.abstract N2 - Cybrid technology was used to replace Leber hereditary optic neuropathy (LHON) causing mitochondrial DNA (mtDNA) mutations from patient-specific fibroblasts with wildtype mtDNA, and mutation-free induced pluripotent stem cells (iPSCs) were generated subsequently. Retinal ganglion cell (RGC) differentiation demonstrates increased cell death in LHON-RGCs and can be rescued in cybrid corrected RGCs.Cybridcybinduced pluripotent stem cellsiPSCsLeber hereditary optic neuropathyLHONMitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like episodesMELASmitochondrialmtretinal ganglion cellsRGCs ER -