Derivation of Induced Pluripotent Stem Cells Line (RCPCMi009-A-1) with Knockout of the UBE2A Gene by CRISPR/Cas9 Genome Editing

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Abstract

The deletions and mutations in the UBE2A gene cause X-linked mental retardation syndrome of Nascimento type first described in 2006 (Nascimento et al., 2006). To study the role of the UBE2A gene in neurodevelopment, we 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 iPSCs line was confirmed by typical stem cell morphology, normal male karyotype maintenance, expression of pluripotency markers and the ability to differentiate into three germ layers.

About the authors

E. A. Khomyakova

Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine

Author for correspondence.
Email: kate.hom@gmail.com
Russia, 119435, Moscow

A. V. Fedorenko

Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine; Skolkovo Institute of Science and Technology

Email: kate.hom@gmail.com
Russia, 119435, Moscow; Russia, 121205, Moscow

A. V. Surdina

Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine

Email: kate.hom@gmail.com
Russia, 119435, Moscow

E. A. Volovikov

Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Scieces

Email: kate.hom@gmail.com
Russia, 119435, Moscow; Russia, 634050, Tomsk

L. D. Belikova

Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Scieces

Email: kate.hom@gmail.com
Russia, 119435, Moscow; Russia, 634050, Tomsk

E. A. Zerkalenkova

Rogachev Federal Scientific and Clinical Centre of Pediatric Hematology, Oncology and Immunology

Email: kate.hom@gmail.com
Russia, 117997, Moscow

M. A. Lagarkova

Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Lopukhin Federal Research and Clinical Center of Physical and Chemical Medicine

Email: kate.hom@gmail.com
Russia, 119435, Moscow; Russia, 119435, Moscow

A. N. Bogomazova

Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Scieces; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Lopukhin Federal Research and Clinical Center of Physical and Chemical Medicine

Email: kate.hom@gmail.com
Russia, 119435, Moscow; Russia, 634050, Tomsk; Russia, 119435, Moscow

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Copyright (c) 2023 Е.А. Хомякова, А.В. Федоренко, А.В. Сурдина, Е.А. Воловиков, Л.Д. Беликова, Е.А. Зеркаленкова, М.А. Лагарькова, А.Н. Богомазова