Derivation of Induced Pluripotent Stem Cells Line (RCPCMi009-A-1) with Knockout of the UBE2A Gene Using CRISPR/Cas9 Genome Editing
E. A. Khomyakovaa, *, A. V. Fedorenkoa, e, A. V. Surdinaa, E. A. Volovikova, b, L. D. Belikovaa, b,
E. A. Zerkalenkovac, M. A. Lagarkovaa, d, and A. N. Bogomazovaa, b, d
a Lopukhin Federal Research and Clinical Center of Physicochemical Medicine, Moscow, 119435 Russia
b Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences,
Tomsk, 634050 Russia
c Rogachev Federal Scientific and Clinical Center of Pediatric Hematology Oncology, and Immunology, Moscow, 117997 Russia
d Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Lopukhin Federal Research and Clinical Center of Physical and Chemical Medicine, Moscow, 119435 Russia
e Skolkovo Institute of Science and Technology, Moscow, 121205 Russia
Correspondence to: *e-mail: kate.hom@gmail.com
Received 12 July, 2023
Abstract—The deletions and mutations in the UBE2A gene cause X-linked mental retardation syndrome of the Nascimento type first described in 2006 (Nascimento et al., 2006). At the moment, approximately two dozen missense and nonsense mutations in the UBE2A gene associated with Nascimento-type mental retardation syndrome are known (Cordeddu et al., 2020). To study the role of the UBE2A gene in neurodevelopment, the authors generated a human iPSC line with knockout of the UBE2A gene (RCPCMi009-A-1) using genome editing CRISPR/Cas9 technology. The knockout of the UBE2A gene was confirmed by Western blotting. The pluripotent state of the RCPCMi009-A-1 iPSC line was confirmed by typical stem cell morphology, normal male karyotype (46,XY) maintenance, expression of pluripotency markers, and the ability to differentiate into the derivatives of three germ layers.
Keywords: Nascimento type X-linked mental retardation, induced pluripotent stem cells, UBE2A gene, gene knockout
DOI: 10.1134/S1062360423060048