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 Mar;43:101725 |
| PubMed | 32036247 |
| DOI | 10.1016/j.scr.2020.101725 |