Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg
Francisco Zurita-Díaz, Teresa Galera-Monge, Ana Moreno-Izquierdo and 4 more
Stem Cell Research · 2017
doi:10.1016/j.scr.2017.08.017 (opens in a new tab)
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Abstract
We have generated a human iPSC line IISHDOi003-A from fibroblasts of a patient with a dominant optic atrophy ‘plus’ phenotype, harbouring a heterozygous mutation, c.1635C>A; p.Ser545Arg, in the OPA1 gene. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using Sendai virus.
Abstract licence: CC BY-NC
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