从2例青春期前和1例青春期周围Klinefelter综合征（47 XXY）患者的原代睾丸体细胞制备、建立和鉴定3个多能干细胞系（CVTTHi002-A、CVTTHi003-A和CVTTHi004-A）。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-01-18 DOI:10.1016/j.scr.2025.103657

Myriam Martin-Inaraja , Irene Romayor , Andrea Sáez de Cámara , Lara Herrera , Ainhoa Palacios , Maria Villaverde , Silvia Santos , Miguel Ángel Vesga , Beatriz Barreña , Ana María Aransay , Juan Anguita , Estíbaliz Solorzano , María Begoña Prieto , Roberto Matorras , Cristina Eguizabal

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引用次数: 0

摘要

Klinefelter综合征（KS）是一种男性非整倍体遗传疾病，其特征是至少有一个额外的X染色体拷贝。由于睾丸纤维化变性，这些患者将来会不孕。发生这种情况的致病机制尚不清楚。在此，我们从青春期前和青春期周围的KS患者的睾丸体细胞中建立了3个诱导多能干细胞（iPSC）系。这可能是建立一个体外平台来分析KS患者睾丸病理生理的分子机制的第一步。

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Generation, establishment and characterization of three pluripotent stem cell lines (CVTTHi002-A, CVTTHi003-A and CVTTHi004-A) from primary testicular somatic cells isolated from two prepuberal and one peripuberal Klinefelter Syndrome (47 XXY) patients

Klinefelter Syndrome (KS) is an aneuploid genetic condition in males characterized by at least one additional copy of the X chromosome. Due to fibrotic degeneration of the testis, these patients suffer infertility in the future. The pathogenic mechanism by which this occurs is still not well known. Here, we establish three Induced Pluripotent Stem cell (iPSC) lines derived from prepuberal and peripuberal KS patient’s testicular somatic cells. These could be the first steps towards the creation of an in vitro platform to analyze the molecular mechanisms underlying pathophysiology of the testes in KS patients.

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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.