携带杂合FLI1 c.297del变异的遗传性血小板疾病患者的人类iPSC细胞系SANi011-A的产生和特性

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-07-10 DOI:10.1016/j.scr.2025.103771

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

FLI1是ETS转录因子家族的一员，与Paris-Trousseau血小板减少症有关，在遗传性血小板疾病患者中发现了种系FLI1突变。我们从一名携带全新杂合无义突变FLI1 c.297del的患者身上产生了iPSC细胞系SANI011-A。采用非整合性仙台病毒（SeV）递送方法将患者外周血的原红细胞重编程为iPSCs。由此获得的iPSC系核型正常，表达多能性标记，具有三龄分化能力。iPSC系为研究造血，特别是巨核造血和fli1相关血小板疾病提供了一个有价值的模型。

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Generation and characterization of human iPSC line SANi011-A from a patient with an inherited platelet disorder carrying the heterozygous FLI1 c.297del variant

FLI1, a member of the ETS transcription factor family, is associated with Paris-Trousseau thrombocytopenia, and germline FLI1 mutations have been identified in patients with inherited platelet disorders. We generated the iPSC line SANI011-A from a patient carrying a de novo heterozygous nonsense mutation, FLI1 c.297del. Proerythroblasts derived from the patient’s peripheral blood were reprogrammed into iPSCs using the non-integrative Sendai virus (SeV) delivery method. The resulting iPSC line exhibited normal karyotype, expressed pluripotent markers, and demonstrated the capacity for trilineage differentiation. The iPSC line provides a valuable model for studying hematopoiesis, particularly megakaryopoiesis and FLI1-related platelet disorders.

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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.