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

被引：1
|
作者：
Pristyazhnyuk, I. E. [1 ]
Meshcheryakov, N. I. [1 ,2 ]
Nikitina, T. V. [3 ]
Kashevarova, A. A. [3 ]
Fedotov, D. A. [3 ]
Tolmacheva, E. N. [3 ]
Minaycheva, L. I. [3 ]
Nazarenko, L. P. [3 ]
Lebedev, I. N. [3 ]
Menzorov, A. G. [1 ,2 ]
机构：
[1] Russian Acad Sci, Siberian Branch, Inst Cytol & Genet, Novosibirsk 630090, Russia
[2] Novosibirsk State Univ, Novosibirsk 630090, Russia
[3] Russian Acad Sci, Tomsk Natl Res Med Ctr, Res Inst Med Genet, Tomsk 634050, Russia
来源：
RUSSIAN JOURNAL OF DEVELOPMENTAL BIOLOGY | 2023年 / 54卷 / 06期
基金：
俄罗斯科学基金会;
关键词：
iPSCs; Xq24; microdeletion; UBE2A deficiency syndrome; recurrent pregnancy loss; skewed X-chromosome inactivation; UBE2A DEFICIENCY SYNDROME; INDUCTION; CULTURES; BLOOD;
D O I：
10.1134/S1062360423060073
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
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.
引用
收藏
页码：358 / 364
页数：7
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