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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.
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Khomyakova et al. (2023) studied this question.
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