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

Summary

Leber 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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Park H, Han J, Lee Y, Kwak S, Koo SK
Journal Stem cell research
Publication Date 2020 Jan 29;43:101725
PubMed 32036247
DOI 10.1016/j.scr.2020.101725

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