携带杂合ETV6 c.1105C > T变异的遗传性血小板疾病患者的人iPSC细胞系SANi012-A的产生和鉴定

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-07-05 DOI:10.1016/j.scr.2025.103769

Huan Zhang , Chantal C. Clark , Elise J. Huisman , Marieke von Lindern , Marjon H. Cnossen , Emile van den Akker , Eszter Varga

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引用次数: 0

摘要

ETV6是ETS家族的一种转录因子，其种系突变与常染色体显性血小板减少症和白血病风险增加有关。我们从一名携带杂合ETV6 c.1105C >；T错义突变。从患者外周血单核细胞（PBMCs）中提取红细胞原细胞，使用慢病毒hoscm多顺反子载体进行重编程。该iPSC细胞系的核型和形态正常，表达多能性标记，并能向三个胚层分化。

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Generation and characterization of human iPSC line SANi012-A from a patient with an inherited platelet disorder carrying the heterozygous ETV6 c.1105C > T variant

Germline mutations in ETV6, a transcription factor of the ETS family, are associated with autosomal dominant thrombocytopenia and an increased risk of leukemia. We generated a human iPSC line, SANi012-A, from a patient carrying a heterozygous ETV6 c.1105C > T missense mutation. Proerythroblasts from the patient’s peripheral blood mononuclear cells (PBMCs) were reprogrammed using a lentiviral hOKSM polycistronic vector. The iPSC line showed normal karyotype and morphology, expressed pluripotency markers, and were able to differentiate into all three germ layers.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.