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Updated: Dec 29, 2025

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

Hyeyeon Park1, Jinu Han2, Youngsun Lee1

  • 1Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Korea National Institute of Health, Chungcheongbuk-do, South Korea.

Stem Cell Research
|February 10, 2020
PubMed

Insights

Leber congenital amaurosis (LCA) patient cells were reprogrammed into a human induced pluripotent stem cell (hiPSC) line. This LCA-specific hiPSC line carries the NMNAT1 mutation and is available for research.

Area of Science:

  • Stem cell biology
  • Genetics
  • Ophthalmology

Background:

  • Leber congenital amaurosis (LCA) is a severe inherited retinal disease causing early-onset blindness.
  • Understanding LCA pathogenesis requires patient-specific cellular models.

Observation:

  • A novel human induced pluripotent stem cell (hiPSC) line, DKHi090-A, was generated from a patient with LCA.
  • The hiPSC line was derived from peripheral blood mononuclear cells (PBMCs) using Sendai virus-based gene delivery.
  • DKHi090-A was confirmed to possess the characteristic nicotinamide mononucleotide adenyltransferase 1 (NMNAT1) mutation found in LCA patients.

Findings:

  • The generated DKHi090-A hiPSC line exhibits pluripotency, indicating its potential to differentiate into various cell types.
  • A normal karyotype was confirmed for the DKHi090-A cell line.
  • The DKHi090-A cell line is registered and accessible through the National Stem Cell Bank, Korea National Institute of Health.

Implications:

  • This LCA-specific hiPSC line provides a valuable tool for studying disease mechanisms.
  • It facilitates the development and testing of potential therapeutic strategies for LCA.
  • Availability of this cell line supports collaborative research in inherited retinal dystrophies.

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