Parallel derivation of X-monosomy induced pluripotent stem cells (iPSCs) with isogenic control iPSCs

Stem Cell Res. 2020 Jul 22:47:101920. doi: 10.1016/j.scr.2020.101920. Online ahead of print.

Abstract

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.