Genetic correction and analysis of induced pluripotent stem cells from a patient with gyrate atrophy

ABSTRACT: Gene-corrected patient-specific induced pluripotent stem (iPS) cells offer a novel approach to gene therapy. Yet it is unknown whether selective pressures during prolonged culture and multiple clonal events would introduce a mutational load incompatible with therapeutic use. Here we begin to assess whether the mutational load of gene-corrected iPS cells is compatible with use in the treatment of genetic causes of retinal degenerative disease. We isolated iPS cells free of transgene sequences from a patient with gyrate atrophy caused by a point mutation in the gene encoding ornithine-δ-aminotransferase (OAT) and used homologous recombination to correct the genetic defect. Cytogenetic analysis, array comparative genomic hybridization (aCGH), and exome sequencing were performed to assess the

ORGANISM(S): Homo sapiens

SUBMITTER: jeff Nie 

PROVIDER: E-GEOD-26773 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress