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

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.

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Publication Details

Journal
Stem Cell Research
Published
2026-02-18
DOI
https://doi.org/10.1016/j.scr.2026.103933
Primary Topic
Pluripotent Stem Cells Research
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Zhihan Zhang, Xiao-Hui Zhang, Zi-Bing Jin
Stem Cell Research
Pluripotent Stem Cells Research
article

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

Zhihan Zhang, Xiao-Hui Zhang, Zi-Bing Jin
article en

Abstract

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.

Stem Cell ResearchVol. 92
Beijing Tongren Hospital (CN)
Zero hunger
Openalex Percentile: Top 52%
Pluripotent Stem Cells Research
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