Generation of a human induced pluripotent stem cell line from a patient with Leber congenital amaurosis

Publication date: Available online 29 January 2020Source: Stem Cell ResearchAuthor(s): Hyeyeon Park, Jinu Han, Youngsun Lee, Sungwook Kwak, Soo Kyung KooAbstractLeber congenital amaurosis (LCA) is an inherited retinal dystrophy that is characterized by severe visual impairment in early infancy. We generated a human induced pluripotent stem cell (hiPSC) line, DKHi090-A, from peripheral blood mononuclear cells (PBMCs) of a patient with LCA, by using a Sendai virus-based gene delivery system. We confirmed that DKHi090-A has a nicotinamide mononucleotide adenyltransferase 1 (NMNAT1) mutation and normal karyotype. DKHi090-A line is pluripotent and is capable of multilineage differentiation. This cell line is registered and is available at the National Stem Cell Bank, Korea National Institute of Health.
Source: Stem Cell Research - Category: Stem Cells Source Type: research