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

doi:10.1016/j.scr.2020.101725

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

Stem Cell Res. 2020 Mar:43:101725. doi: 10.1016/j.scr.2020.101725. Epub 2020 Jan 29.

Authors

Hyeyeon Park¹, Jinu Han², Youngsun Lee¹, Sungwook Kwak¹, Soo Kyung Koo³

Affiliations

¹ Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Korea National Institute of Health, Chungcheongbuk-do, South Korea.
² Department of Ophthalmology, Institute of Vision Research, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
³ Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Korea National Institute of Health, Chungcheongbuk-do, South Korea. Electronic address: skkoo@korea.kr.

PMID: 32036247
DOI: 10.1016/j.scr.2020.101725

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Animals
Female
Humans
Induced Pluripotent Stem Cells / metabolism*
Infant
Leber Congenital Amaurosis / genetics*