从一名 Xq24 微缺失患者的成纤维细胞中生成诱导多能干细胞 iTAF15Xsk4 系

Pub Date : 2023-12-01 DOI:10.1134/s1062360423060073

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引用次数: 0

摘要

摘要从患者和健康供体中分化诱导多能干细胞（iPSCs）可用于遗传疾病的体外研究。作者曾报告过一个临床病例，患者的外周血淋巴细胞、子宫内膜和口腔上皮细胞中存在偏斜的 X 染色体失活，导致其反复妊娠失败。在 Xq24 上发现了 239 kb 的微缺失，影响了包括 UBE2A 在内的 8 个基因。在这项工作中，使用非整合外显子载体从患者的皮肤成纤维细胞中产生了 iPSC 株 iTAF15Xsk4。该 iPSC 株系具有正常核型，表达多能性标记，并在胚状体分化后表达所有三个生殖层的标记。该细胞系可用于 UBE2A 缺乏综合征的研究。

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

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.

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