Generation of an induced pluripotent stem cell line BIOi002-A from a patient with autosomal dominant optic atrophy

Abstract

Mutations of the OPA1 gene are responsible for over 70% of autosomal dominant optic atrophy patients. Peripheral blood mononuclear cells (PBMCs) were isolated from a 27–year-old patient with heterozygous c.2708_2711delTTAG mutation in the OPA1 gene. PBMCs were reprogrammed into induced pluripotent stem cell (iPSC) line with episomal plasmids encoding hOCT4, hSOX2, hNANOG, hLIN28, hKLF4 and hL-MYC. The established iPSC line had normal karyotype, expressed pluripotent markers, and was capable to differentiate into the three germ layers in vivo.