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

Hyeyeon Park; Jinu Han; Youngsun Lee; Sungwook Kwak; Soo Kyung Koo

Stem Cell Research (Mar 2020)

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

Hyeyeon Park,
Jinu Han,
Youngsun Lee,
Sungwook Kwak,
Soo Kyung Koo

Affiliations

Hyeyeon Park: Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Korea National Institute of Health, Chungcheongbuk-do, South Korea
Jinu Han: Department of Ophthalmology, Institute of Vision Research, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea
Youngsun Lee: Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Korea National Institute of Health, Chungcheongbuk-do, South Korea
Sungwook Kwak: Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Korea National Institute of Health, Chungcheongbuk-do, South Korea
Soo Kyung Koo: Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Korea National Institute of Health, Chungcheongbuk-do, South Korea; Corresponding author.

Journal volume & issue: Vol. 43

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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