DNA microarrays of Turner Syndrome induced pluripotent stem cells

We have generated iPSCs from monosomy X (Turner Syndrome), trisomy 8 (Warkany Syndrome 2), trisomy 13 (Patau Syndrome) and partial trisomy 11;22 (Emanuel Syndrome), using either skin fibroblasts from affected individuals or amniocytes from antenatal diagnostic tests. These cell lines stably maintain the karyotype of the donors and behave like embryonic stem cells (ESCs) in all tested assays. Turner Syndrome iPSCs were used for further studies including global gene expression analysis and tissue-specific directed differentiation. Multiple clones displayed lower levels of the pseudoautosomal genes ASMTL and PPP2R3B than the controls. Moreover, they could be transformed into neural-like, hepatocyte-like and heart-like cells but displayed insufficient up-regulation of the pseudoautosomal placental gene CSF2RA during embryoid body (EB) formation. These data support that abnormal organogenesis and early lethality in Turner Syndrome are not caused by a tissue-specific differentiation blockade but rather involves other abnormalities including impaired placentation.

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Li W, Wang X, Fan W, Zhao P, Chan YC, Chen S, Zhang S, Guo X, Zhang Y, Li Y, Cai J, Qin D, Li X, Yang J, Peng T, Zychlinski D, Hoffmann D, Zhang R, Deng K, Ng KM, Menten B, Zhong M, Wu J, Li Z, Chen Y, Schambach A, Tse HF, Pei D, Esteban MA