从携带BRCA1突变的乳腺癌患者中生成两条诱导多能干细胞系。

Generation of two induced pluripotent stem cell lines from breast cancer patients carrying BRCA1 mutations.

作者信息

Chen Yi-Ing, Caudal Arianne, Flores-Banuelos Amira G, Yan Christopher D, Park Walter G, Viswanathan Mohan, Wu Joseph C

机构信息

Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.

Greenstone Biosciences, Palo Alto, CA 94305, USA.

出版信息

Stem Cell Res. 2025 Aug;86:103716. doi: 10.1016/j.scr.2025.103716. Epub 2025 Apr 18.

DOI:10.1016/j.scr.2025.103716

PMID:40286603

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12203875/

Abstract

Haploinsufficiency of BRCA1 increases the risk of various cancers due to its critical functions in cell cycle checkpoint regulation and DNA repair. This study generated and characterized two induced pluripotent stem cell (iPSC) lines derived from breast cancer patients with mutations in the BRCA1 gene (c.676del and c.5096G>A). Both lines exhibited typical iPSC morphology, karyotype, pluripotency marker expression, and trilineage differentiation capabilities. BRCA1-mutated iPSCs provide a valuable resource to investigate pathogenic mechanisms and develop personalized medicine.

摘要

由于BRCA1在细胞周期检查点调控和DNA修复中发挥关键作用，其单倍剂量不足会增加患各种癌症的风险。本研究生成并鉴定了两条源自BRCA1基因发生突变（c.676del和c.5096G>A）的乳腺癌患者的诱导多能干细胞（iPSC）系。这两条细胞系均表现出典型的iPSC形态、核型、多能性标志物表达及三系分化能力。BRCA1突变的iPSC为研究致病机制和开发个性化药物提供了宝贵资源。