Russian Journal of Developmental Biology. Vol. 54, No. 1, Pages S68-S74, 2023

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

^aTomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, 635050 Russia

^bInstitute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, Novosibirsk, 630090 Russia

^cMeshalkin Medical Research Center, Ministry of Health of the Russian Federation, Novosibirsk, 630055 Russia

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.

Keywords: cystic fibrosis, induced pluripotent stem cells, reprogramming, fibroblasts

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