从一位 G542X-CFTR 突变纯合的囊性纤维化患者的鼻腔细胞中诱导生成多能干细胞系（IGGi002A）。
Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation.
机构信息
II Department of Lung Diseases and Tuberculosis, Medical University of Bialystok, Bialystok, Poland.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy.
出版信息
Stem Cell Res. 2023 Oct;72:103232. doi: 10.1016/j.scr.2023.103232. Epub 2023 Oct 18.
Cystic Fibrosis Transmembrane conductance Regulator (CFTR) is a chloride channel defective in cystic fibrosis (CF). Several CFTR mutations are causative of CF, among which G542X is a nonsense mutation introducing a premature stop codon which prevents CFTR protein synthesis. We generated a new iPSC line from nasal cells carrying G542X homozygous mutation for CFTR: IGGi002A. This cell line has normal female karyotype, express pluripotency markers and could differentiate into three germ layers in vitro. This iPSC line may be used for disease modeling (cell differentiation and organoid formation) and development of personalized treatments by genome editing or pharmacological screening.
囊性纤维化跨膜电导调节因子（CFTR）是囊性纤维化（CF）中缺陷的氯离子通道。几种 CFTR 突变是 CF 的致病原因，其中 G542X 是一种无义突变，引入过早终止密码子，从而阻止 CFTR 蛋白的合成。我们从携带 CFTR G542X 纯合突变的鼻腔细胞中产生了一个新的 iPSC 系：IGGi002A。该细胞系具有正常的女性核型，表达多能性标记物，并可在体外分化为三个胚层。该 iPSC 系可用于疾病建模（细胞分化和类器官形成）和通过基因组编辑或药物筛选开发个性化治疗方法。
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