Research Centre for Medical Genetics
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Stem cell cultures from a Russian cystic fibrosis patient are now available at the European Stem Cell Bank

Researchers of the Genome Editing, Mutagenesis Laboratories and FSBI RCMG Biobank obtained and fully characterized cultures of induced pluripotent stem cells (iPSCs) of a cystic fibrosis patient with F508del and W1282X mutations in the CFTR gene.

Two IPSC lines were obtained by reprogramming from skin fibroblasts of a 28-year-old man with clinically manifested and genetically confirmed (F508del/W1282X) cystic fibrosis. Stem Cell Research published the lines obtaining protocol and their full characterization (Q1, impact factor 4,489). European Human Stem Cell Registry (hPSCreg) registered the cell lines and they are now available to all scientists worldwide for research purposes. The Genome Editing Laboratory plans to use the resulting hPSC lines to develop methods for targeting mutation correction using CRISPR-Cas9.

Kondrateva E, Demchenko A, Slesarenko Y, Pozhitnova V, Yasinovsky M, Amelina E, Tabakov V, Voronina E, Lavrov A, Smirnikhina S. Generation of two induced pluripotent stem cell lines (RCMGi004-A and -B) from human skin fibroblasts of a cystic fibrosis patient with compound heterozygous F508del/W1282X mutations. Stem Cell Research, 2021, Volume 52, April 2021, 102232. DOI: 10.1016/j.scr.2021.102232.