Establishment of an induced pluripotent stem cell line from a patient with Leber Congenital Amaurosis

Summary

A human induced pluripotent stem cell (hiPSC) line BTHBIOi006-A was generated from peripheral blood mononuclear cells of a patient carrying RDH12 biallelic mutations via episomal reprogramming. The line exhibits a normal karyotype, expresses pluripotent markers, differentiates into three germ layers, and is mycoplasma-free, serving as a tool for retinal disease research. Copyright © 2026 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Zhang ZH, Zhang XH, Jin ZB
Journal Stem cell research
Publication Date 2026 Apr;92:103933
PubMed 41759220
DOI 10.1016/j.scr.2026.103933

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