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  • Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys.

Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys.

Stem cell research (2019-09-12)
Victoria Cerrada, Marta García-López, Ana Moreno-Izquierdo, Cristina Villaverde, Olga Zurita, Maria Inmaculada Martin-Merida, Joaquín Arenas, Carmen Ayuso, M Esther Gallardo
PMID31509793
ABSTRACT

Human iPSC line, IISHDOi006-A, was obtained from fibroblasts of a patient with Dominant Optic Atrophy (DOA) carrying a heterozygous mutation in the gene ACO2: c.1999G>A; p.Glu667Lys. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using a non-integrative methodology that involves the use of Sendai virus.