E-MTAB-5145 - Analysis of undifferentiated hiPSC and differentiation into intermediate mesoderm of cells from patients carrying a heterozygous mutation in the SAMD9 gene
Last updated on 2 June 2017, released on 2 June 2017
hiPSC were derived from fibroblasts of two patients carrying a heterozygous mutation in the SAMD9 gene. The patients have a multisystem disorder of intrauterine growth restriction (IUGR) with gonadal, adrenal and bone marrow failure and high mortality. To examine a potential influence of the SAMD9 mutation on cell differentiation hiPSC were differentiated towards intermediate mesoderm, from which can further differentiate to adrenal gland in normal human development. Gene expression profiles of undifferentiated and differentiated cells were analysed and compared to iPSC lines derived from normal donors.
transcription profiling by array, cell type comparison design
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. Buonocore F, Kühnen P, Suntharalingham JP, Del Valle I, Digweed M, Stachelscheid H, Khajavi N, Didi M, Brady AF, Blankenstein O, Procter AM, Dimitri P, Wales JKH, Ghirri P, Knöbl D, Strahm B, Erlacher M, Wlodarski MW, Chen W, Kokai GK, Anderson G, Morrogh D, Moulding DA, McKee SA, Niemeyer CM, Grüters A, Achermann JC. 127(5):1700-1713 (2017), PMID:28346228