4 years ago

Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg.

M Esther Gallardo, Carmen Ayuso, Francisco Zurita-Díaz, Rafael Garesse, Marta Corton, Teresa Galera-Monge, Ana Moreno-Izquierdo
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.

Publisher URL: http://doi.org/10.1016/j.scr.2017.08.017

DOI: 10.1016/j.scr.2017.08.017

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