What question did this study set out to answer?

To establish an induced pluripotent stem cell line from a USH2 patient with specific USH2A mutations.

February 28, 2026Open Access

Generation of the induced pluripotent stem cell line BTHBIOi002-A derived from a USH2 patient with c.2512C>T and c.2802T>G mutations in USH2A gene

Key Points

To establish an induced pluripotent stem cell line from a USH2 patient with specific USH2A mutations.
Derived iPSC line from peripheral blood mononuclear cells
Used non-integrating episomal plasmids for reprogramming
Electroporated with OCT4, SOX2, NANOG, LIN28, c-Myc, and KLF4
Validated for karyotype stability and pluripotency markers
Assessed ability to differentiate into all three germ layers
Successfully established the BTHBIOi002-A iPSC line
Confirmed karyotype stability and expression of pluripotency markers
Demonstrated differentiation capability into all three germ layers

Abstract

Mutation in USH2A gene cause autosomal recessive retinitis pigmentosa (RP) and Usher syndrome type II (USH2), constituting over 50% of USH2 and approximately 7% of RP. Here, we report the establishment of a human induced pluripotent stem cell (iPSC) line, BTHBIOi002-A, derived from the peripheral blood mononuclear cells (PBMCs) of a USH2 patient with compound heterozygous mutation in USH2A (c.2512C>T; 2802 T>G), using the non-integrating episomal plasmids delivered by electroporation with OCT4, SOX2, NANOG, LIN28, c-Myc, and KLF4. The established iPSC line was validated for the karyotype stability, pluripotency markers, and the ability to differentiate into all three germ layers.

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Cite This Study

Xia et al. (Sun,) studied this question.

synapsesocial.com/papers/69a285da0a974eb0d3c00baf https://doi.org/https://doi.org/10.1016/j.scr.2026.103935

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