E-MTAB-5145 - Analysis of undifferentiated hiPSC and differentiation into intermediate mesoderm of cells from patients carrying a heterozygous mutation in the SAMD9 gene

Status
Last updated on 2 June 2017, released on 2 June 2017
Organism
Homo sapiens
Samples (10)
Array (1)
Protocols (8)
Description
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.
Experiment types
transcription profiling by array, cell type comparison design
Contact
Citation
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
MIAME
PlatformsProtocolsVariablesProcessedRaw
Files
Investigation descriptionE-MTAB-5145.idf.txt
Sample and data relationshipE-MTAB-5145.sdrf.txt
Raw data (1)E-MTAB-5145.raw.1.zip
Array designA-MEXP-1171.adf.txt