Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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

ABSTRACT: 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.

ORGANISM(S): Homo sapiens

SUBMITTER: Harald Stachelscheid 

PROVIDER: E-MTAB-5145 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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It is well established that somatic genomic changes can influence phenotypes in cancer, but the role of adaptive changes in developmental disorders is less well understood. Here we have used next-generation sequencing approaches to identify de novo heterozygous mutations in sterile α motif domain-containing protein 9 (SAMD9, located on chromosome 7q21.2) in 8 children with a multisystem disorder termed MIRAGE syndrome that is characterized by intrauterine growth restriction (IUGR) with gonadal,  ...[more]

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