Generation of an Induced Pluripotent Stem Cell Line ICGi046-A of a Patient Carrying Pathogenic p.Ser259Thr Variant in RAF1 Associated with RASopathy

E. V. Dementyevaa, *, E. S. Klimenkoa, b, J. M. Mininaa, S. M. Zakiana, c, and A. A. Kostarevab

a Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, Novosibirsk, 630090 Russia

b Almazov National Medical Research Center, St. Petersburg, 197341 Russia

c Meshalkin National Medical Research Center, Novosibirsk, 630055 Russia

Correspondence to: *e-mail: dementyeva@bionet.nsc.ru

Received 12 October, 2023

Abstract— Technology of generation of induced pluripotent stem cells followed by differentiation into relevant cell type allows obtaining cell models for studying various inherited human diseases. In the study, an induced pluripotent stem cell (iPSC) line (ICGi046-A) was generated as a result of reprogramming of mononuclear cells of a RASopathy patient carrying pathogenic c.775T>A (p.Ser259Thr) variant in RAF1 to the pluripotent state. The ICGi046-A line demonstrated morphology characteristic of human pluripotent cells, normal karyotype (46,XY), expression of pluripotency markers (OCT4, NANOG, SOX2, TRA-1-60), and capacity to give rise to derivatives of three germ layers during spontaneous differentiation. The iPSC line can be used for studying molecular mechanisms of RASopathies.

Keywords: RASopathies, reprogramming to the pluripotent state, induced pluripotent stem cells, cell models of human inherited diseases

DOI: 10.1134/S1062360423070032