Modeling sex differences in humans using isogenic induced pluripotent stem cells (RRBS)

We developed a cellular model to study sex differences in humans. Using somatic cells from a mosaic Kleinefelter patient, we generated isogenic human induced pluripotent stem cell lines with different sex chromosome complements – 47,XXY / 46,XX / 46,XY and 45,X0. Overall design: Reduced representation bisulfite sequencing (RRBS) of six isogenic hiPSC cell lines - XX1, XX2, XX3, XY1, XY2, XY3

本研究构建了用于探究人类性别差异的细胞模型。研究人员利用一名嵌合型克兰费尔特综合征（Kleinefelter）患者的体细胞，构建了携带不同性染色体组型的同基因人类诱导多能干细胞（hiPSC）系，其性染色体组型涵盖47,XXY、46,XX、46,XY及45,X0。实验设计概述：对6株同基因人类诱导多能干细胞系（XX1、XX2、XX3、XY1、XY2、XY3）开展简化代表性亚硫酸氢盐测序（Reduced representation bisulfite sequencing, RRBS）。