Abstract：
Li-Fraumeni syndrome (LFS) is a rare autosomal dominant inherited genetic disorder that greatly increases the risk of developing several types of cancer, including young children and young adults. LFS is primarily caused by specific mutations in the tumor suppressor gene TP53. In this study, we successfully generated two human induced pluripotent stem cell (iPSC) lines derived from patients diagnosed with LFS, each carrying a distinct heterozygous mutation in the TP53 gene. These LFS patient-derived iPSC lines exhibited robust expression of key pluripotency markers, demonstrated the capacity to differentiate into all three germ layers (endoderm, mesoderm, and ectoderm), and maintained a normal karyotype. The establishment of these iPSC lines provides a valuable tool for modeling LFS in vitro, enabling researchers to investigate the underlying pathological mechanisms associated with the disease across various cell types and tissues.
摘要：
Li-Fraumeni综合征（LFS）是一种罕见的常染色体显性遗传遗传疾病，大大增加了患几种癌症的风险，包括幼儿和年轻人。LFS主要由肿瘤抑制基因TP53中的特定突变引起。在这项研究中,我们成功地从诊断为LFS的患者中产生了两个人诱导多能干细胞（iPSC）系，每个在TP53基因中携带不同的杂合突变。这些LFS患者来源的iPSC细胞系表现出关键多能性标志物的稳健表达，证明了分化为所有三个胚层(内胚层，中胚层,和外胚层)，保持正常的核型.这些iPSC细胞系的建立为体外LFS建模提供了有价值的工具，使研究人员能够在各种细胞类型和组织中研究与疾病相关的潜在病理机制。
