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

Authors
 Hyeyeon Park  ;  Jinu Han  ;  Youngsun Lee  ;  Sungwook Kwak  ;  Soo Kyung Koo 
Citation
 STEM CELL RESEARCH, Vol.43 : e101725, 2020 
Journal Title
 STEM CELL RESEARCH 
ISSN
 1873-5061 
Issue Date
2020
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.
Files in This Item:
T202000824.pdf Download
DOI
10.1016/j.scr.2020.101725
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Han, Jinu(한진우) ORCID logo https://orcid.org/0000-0002-8607-6625
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/175613
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