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  • Generation of Induced Pluri...
    Pristyazhnyuk, I. E.; Meshcheryakov, N. I.; Nikitina, T. V.; Kashevarova, A. A.; Fedotov, D. A.; Tolmacheva, E. N.; Minaycheva, L. I.; Nazarenko, L. P.; Lebedev, I. N.; Menzorov, A. G.

    Russian journal of developmental biology, 12/2023, Letnik: 54, Številka: 6
    Journal Article

    Differentiation of induced pluripotent stem cells (iPSCs) from patients and healthy donors allows in vitro study of genetic disorders. The authors have previously reported a clinical case of recurrent pregnancy loss in a patient with skewed X-chromosome inactivation in peripheral blood lymphocytes, endometrium, and buccal epithelium. A 239 kb microdeletion at Xq24 that affected eight genes, including UBE2A , has been found. In this work, an iPSC line iTAF15Xsk4 was produced from the patient’s skin fibroblasts using nonintegrating episomal vectors. The iPSC line had a normal karyotype, expressed pluripotency markers, and expressed markers of all three germ layers upon differentiation in embryoid bodies. This cell line could be used for the UBE2A deficiency syndrome study.