通过重编程一名同型 F508del 囊性纤维化患者的成纤维细胞，生成诱导多能干细胞系 TNRMCi001-A

Pub Date : 2024-03-23 DOI:10.1134/s106236042307007x

D. I. Zhigalina, T. N. Kireeva, T. V. Nikitina, O. N. Odinokova, N. A. Kolesnikov, A. A. Malakhova, R. R. Savchenko, I. Zh. Zhalsanova, N. R. Valiahmetov, A. E. Postrigan, S. L. Vovk, N. B. Torkhova, A. A. Frolova, V. A. Stepanov, N. A. Skryabin

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引用次数: 0

摘要

摘要囊性纤维化（CF）是一种遗传性疾病，会导致细胞内氯离子通道功能受损，从而导致所有外分泌腺分泌物的粘弹性降低。囊性纤维化是囊性纤维化跨膜传导调节器（CFTR）基因突变的结果，该基因编码CFTR蛋白。在这项研究中，诱导多能干细胞（iPSCs）是从一名患有同基因突变 F508del CFTR（NM_000492.3(CFTR):c.1521_1523del）患者的皮肤成纤维细胞中获得的。这种缺失在囊性纤维化中最为常见。由此产生的 iPSC 株系具有正常核型，保留了原始基因型，还显示了多能性标记（OCT4、SOX2、NANOG、SSEA4、TRA-1-60）的存在，以及分化成三个胚层衍生物的能力。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Generation of an Induced Pluripotent Stem Cell Line TNRMCi001-A by Reprogramming Fibroblasts from a Homozygous F508del Cystic Fibrosis Patient

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Generation of an Induced Pluripotent Stem Cell Line TNRMCi001-A by Reprogramming Fibroblasts from a Homozygous F508del Cystic Fibrosis Patient

Abstract

Cystic fibrosis (CF) is a hereditary disease that leads to impaired functioning of chloride channels in cells, and, as a result, to a decrease in the viscoelastic properties of the secretion of all exocrine glands. Cystic fibrosis is the result of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes the CFTR protein. In this study, induced pluripotent stem cells (iPSCs) were obtained from the skin fibroblasts of a patient with a homozygous mutation F508del CFTR (NM_000492.3(CFTR):c.1521_1523del). This deletion is the most common for cystic fibrosis. The resulting iPSC line had a normal karyotype, retained the original genotype, and also demonstrated the presence of pluripotency markers (OCT4, SOX2, NANOG, SSEA4, TRA-1-60) and the ability to differentiate into derivatives of three germ layers.

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