从三名无关的47,XXY克氏综合征患者（KAUSTi007 - A、KAUSTi007 - B、KAUSTi009 - A、KAUSTi009 - B、KAUSTi010 - A、KAUSTi010 - B）建立诱导多能干细胞队列。
Establishment of an iPSC cohort from three unrelated 47-XXY Klinefelter Syndrome patients (KAUSTi007-A, KAUSTi007-B, KAUSTi009-A, KAUSTi009-B, KAUSTi010-A, KAUSTi010-B).
作者信息
Alowaysi Maryam, Fiacco Elisabetta, Astro Veronica, Adamo Antonio
机构信息
Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia.
Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia.
出版信息
Stem Cell Res. 2020 Dec;49:102042. doi: 10.1016/j.scr.2020.102042. Epub 2020 Oct 10.
Klinefelter Syndrome (KS) is caused by the presence of a supernumerary X chromosome. Cytogenetic studies revaled that 80-90% of patients carry a 47-XXY karyotype, while 10-20% of cases are represented by mosaic 46-XY/47-XXY and high-grade aneuploidies 48-XXXY and 48-XXYY. The phenotypic traits of KS are highly variable across individuals and include cognitive dysfunction, metabolic dysregulation, osteoporosis, and cardiovascular diseases. Here, we describe the derivation of multiple 47-XXY iPSC lines from three unrelated KS patients to study the impact of supernumerary X chromosome during early development.
克兰费尔特综合征（KS）是由额外的X染色体存在引起的。细胞遗传学研究表明，80 - 90%的患者携带47,XXY核型，而10 - 20%的病例表现为嵌合型46,XY/47,XXY以及高等级非整倍体48,XXXY和48,XXYY。KS的表型特征在个体间差异很大，包括认知功能障碍、代谢失调、骨质疏松和心血管疾病。在此，我们描述了从三名无亲缘关系的KS患者中获得多个47,XXY诱导多能干细胞系，以研究早期发育过程中额外X染色体的影响。
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