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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Transcriptome analysis of pancreatic endoderm differentiated from induced pluripotent stem cells derived from a patient with Mitchell-Riley Syndrome and her unaffected father

ABSTRACT: Skin biopsies were obtained from a patient with Mitchell-Riley syndrome and her unaffected father. The patient suffered neonatal diabetes, anaemia, intrauterine growth restriction, pancreatic hypoplasia and duodenal atresia, in common with other Mitchell-Riley syndrome patients. The disease was found to be caused by a homozygous frame-shift mutation (c.1129C>T) in the RFX6 gene that leads to a premature stop codon (p.Arg377Ter), of which her father is a carrier. Fibroblasts from the biopsies were reprogrammed to generate human induced pluripotent stem cell (hiPSC) lines: two from the patient (MRS2-6 & MRS2-10) and two from the father (F14 & F18). To assess the effects of the mutant RFX6 allele on pancreas formation, these iPSC were differentiated into PDX1+ pancreatic endoderm and samples harvested for RNA isolation and whole transcriptome analysis. The number of biological replicates (independent differentiation experiments) carried out for each cell line are as follows: F14 (2), F18 (2), MRS2-6 (1), MRS2-10 (2). Two technical replicates were sequenced for each independent experiment.

INSTRUMENT(S): Illumina NovaSeq 6000

ORGANISM(S): Homo sapiens

SUBMITTER: Jamie Trott

PROVIDER: E-MTAB-9243 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Transcriptome analysis of pancreatic progenitors differentiated from H9 human embryonic stem cells and induced pluripotent stem cells derived from a Mitchell-Riley Syndrome patient

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