Establishment of an induced pluripotent stem cell line BTHBIOi003-A from a Leber’s congenital amaurosis patient

The RDH12 gene encodes a retinal dehydrogenase enzyme critical for visual pigment regeneration. Peripheral blood mononuclear cells (PBMCs) were isolated from a 28-year-old patient harboring a homozygous nonsense mutation c.193C > T, p.R65X in RDH12 . These cells were reprogrammed into an induced pluripotent stem cell (iPSC) line using episomal plasmids expressing the human reprogramming factors OCT4 , SOX2 , NANOG , LIN28 , KLF4 , and L-MYC . The established iPSC line demonstrated a normal karyotype, expressed canonical pluripotency markers, and possessed the capacity to differentiate into derivatives of all three germ layers in vitro.