Russian Journal of Developmental Biology. Vol. 54, No. 6, Pages 358-364, 2023

I. E. Pristyazhnyuk^a, N. I. Meshcheryakov^a^,^b, T. V. Nikitina^c, A. A. Kashevarova^c, D. A. Fedotov^c, E. N. Tolmacheva^c, L. I. Minaycheva^c, L. P. Nazarenko^c, I. N. Lebedev^c, and A. G. Menzorov^a^,^b^, *

^aInstitute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, Novosibirsk, 630090 Russia

^cResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, 634050 Russia

Abstract—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.

Keywords: iPSCs, Xq24 microdeletion, UBE2A deficiency syndrome, recurrent pregnancy loss, skewed X‑chromosome inactivation

Generation of Induced Pluripotent Stem Cell Line iTAF15Xsk4 from Fibroblasts of a Patient with Microdeletion at Xq24