Establishment of an induced pluripotent stem cell line BTHBIOi003-A from a Leber's congenital amaurosis patient
Summary
The RDH12 gene encodes a retinal dehydrogenase enzyme critical for visual pigment regeneration. Peripheral blood mononuclear cells (PBMCs) were isolated from a 28-year-old patient harboring a homozygous nonsense mutation c.193C > T, p.R65X in RDH12. These cells were reprogrammed into an induced pluripotent stem cell (iPSC) line using episomal plasmids expressing the human reprogramming factors OCT4, SOX2, NANOG, LIN28, KLF4, and L-MYC. The established iPSC line demonstrated a normal karyotype, expressed canonical pluripotency markers, and possessed the capacity to differentiate into derivatives of all three germ layers in vitro. Copyright © 2026. Published by Elsevier B.V.
| Authors | Yu SJ, Jin ZB, Liu W |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Apr 15;94:103989 |
| PubMed | 42000543 |
| DOI | 10.1016/j.scr.2026.103989 |