Feki Anis, Sloan-Béna Frédérique, Hibaoui Youssef
Service de gynécologie obstétrique, HFR Fribourg - Hôpital cantonal, Chemin des Pensionnats 2-6, Case postale, 1708 Fribourg, Switzerland; Stem Cell Research Laboratory, Department of Obstetrics and Gynecology, Geneva University Hospitals, Geneva, Switzerland.
Service of Genetic Medicine, Geneva University Hospitals, 4 Rue Gabrielle-Perret-Gentil, 1211 Geneva 4, Switzerland.
Stem Cell Res. 2020 Jul 22;47:101920. doi: 10.1016/j.scr.2020.101920.
Turner syndrome, caused by partial or complete loss of one copy of X-chromosome (45,X), is the most common sex chromosome abnormality in women with an incidence of 1 in 2500 female births. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) carrying X-monosomy anomaly, with isogenic control iPSCs. Among the iPSC lines generated from 46XX-fibroblasts, one spontaneously lost a copy of X-chromosome following the reprogramming process, establishing the 45X-iPSC line.
特纳综合征由一条X染色体部分或完全缺失（45,X）引起，是女性中最常见的性染色体异常疾病，在女性出生中的发病率为1/2500。在此，我们报告了携带X单体异常的诱导多能干细胞（iPSC）及其同基因对照iPSC的产生和特征。在由46,XX成纤维细胞产生的iPSC系中，有一个在重编程过程后自发丢失了一条X染色体，从而建立了45,X-iPSC系。
