Generation of the induced pluripotent stem cell line SJTUGHi004-A derived from a Best’s disease patient with c.763C > T mutation in BEST1 gene
Year: 2025
Type: article
Abstract: Best's disease (BD), referred to as Best vitelliform macular dystrophy, is an autosomal dominant macular degeneration caused by mutations in the BESTROPHIN1 (BEST1) gene. Here, we generated an induced pluripotent stem cell (iPSC) line by the non-integrative Sendai-virus delivery system derived from peripheral blood mononuclear cells (PBMCs) of a patient with c.763C > T mutation in the BEST1 gene. The iPSC line was characterized and validated for the karyotype stability, pluripotency markers, and differentiation potential in vitro, which may serve as a powerful model for exploring the pathological mechanism and pharmaceutical development.
Source: Stem Cell Research
Authors: Yuxin Jiang, Hong Wang, Lihong Jiang, Jieqiong Chen, Tong Li, Guanran Zhang, Xueli Chen, Mei Jiang, Xiaodong Sun
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,360
OpenAlex ID: W4413514527