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Generation of a human induced pluripotent stem cell line from a patient with Leber congenital amaurosis. 2020

Hyeyeon Park, and Jinu Han, and Youngsun Lee, and Sungwook Kwak, and Soo Kyung Koo
Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Korea National Institute of Health, Chungcheongbuk-do, South Korea.

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.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia
D057026 Induced Pluripotent Stem Cells Cells from adult organisms that have been reprogrammed into a pluripotential state similar to that of EMBRYONIC STEM CELLS. Human Induced Pluripotent Stem Cell,IPS Cell,IPS Cells,Induced Pluripotent Stem Cell,Fibroblast-Derived IPS Cells,Fibroblast-Derived Induced Pluripotent Stem Cells,Human Induced Pluripotent Stem Cells,hiPSC,Cell, Fibroblast-Derived IPS,Cell, IPS,Cells, Fibroblast-Derived IPS,Cells, IPS,Fibroblast Derived IPS Cells,Fibroblast Derived Induced Pluripotent Stem Cells,Fibroblast-Derived IPS Cell,IPS Cell, Fibroblast-Derived,IPS Cells, Fibroblast-Derived
D057130 Leber Congenital Amaurosis A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells. Amaurosis, Leber Congenital,Congenital Amaurosis of Retinal Origin,Congenital Retinal Blindness,Dysgenesis Neuroepithelialis Retinae,Hereditary Epithelial Dysplasia of Retina,Hereditary Retinal Aplasia,Heredoretinopathia Congenitalis,Leber Abiotrophy,Leber Congenital Tapetoretinal Degeneration,Leber's Amaurosis,Abiotrophies, Leber,Abiotrophy, Leber,Amauroses, Leber Congenital,Amauroses, Leber's,Amaurosis, Leber's,Blindness, Congenital Retinal,Blindnesses, Congenital Retinal,Congenital Amauroses, Leber,Congenital Amaurosis, Leber,Congenital Retinal Blindnesses,Leber Abiotrophies,Leber Amaurosis,Leber Congenital Amauroses,Leber's Amauroses,Lebers Amaurosis,Retinal Blindnesses, Congenital

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