- PII
- 10.31857/S0475145023060071-1
- DOI
- 10.31857/S0475145023060071
- Publication type
- Status
- Published
- Authors
- Volume/ Edition
- Volume 54 / Issue number 6
- Pages
- 397-404
- Abstract
- Differentiation of induced pluripotent stem (iPS) cells from patients and healthy donors allows in vitro study of genetic disorders. We 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. We have found a 239 kb microdeletion at Xq24 that affected eight genes including UBE2A. In this work, we produced iPS cell line iTAF15Xsk4 from the patient’s skin fibroblasts using non-integrating episomal vectors. iPS cell line had a normal karyotype, expressed pluripotency markers, and upon differentiation in embryoid bodies expressed markers of all three germ layers. This cell line could be used for the UBE2A deficiency syndrome study.
- Keywords
- ИПСК микроделеция Xq24 синдром дефицита <i>UBE2A</i> привычное невынашивание беременности асиммметричная инактивация Х-хромосомы
- Date of publication
- 19.09.2025
- Year of publication
- 2025
- Number of purchasers
- 0
- Views
- 19
References
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