Human induced pluripotent stem cells from two azoospermic patients with Klinefelter syndrome show similar X chromosome inactivation behavior to female pluripotent stem cells

来自两名克氏综合征无精子症患者的人类诱导性多能干细胞表现出与女性多能干细胞相似的 X 染色体失活行为

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作者:Sarita Panula, Magdalena Kurek, Pankaj Kumar, Halima Albalushi, Sara Padrell Sánchez, Pauliina Damdimopoulou, Jan I Olofsson, Outi Hovatta, Fredrik Lanner, Jan-Bernd Stukenborg

Methods

In this study, we derived hiPSCs by reprograming fibroblasts with episomal plasmids and applying laminin 521 as culture substrate. hiPSCs were characterized by karyotyping, immunocytochemistry, immunohistochemistry, quantitative PCR, teratoma formation, and embryoid body differentiation. XCI and KS hiPSC relevance were assessed by whole genome transcriptomics analysis and immunocytochemistry plus FISH of KS, HM and female fibroblast, and their hiPSC derivatives. Main

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