Article

Using Human Induced Pluripotent Stem Cell Derived Organoids to Identify New Pathologies in Patients with PDX1 Mutations

2021-04-26

Abstract excerpt

<h4>Summary</h4> Two patients with mutations in PDX1 presented with pancreatic agenesis, chronic diarrhea and poor weight gain, the causes of which were not identified through routine clinical testing. We generated patient derived organoids as a novel diagnostic strategy and observed that PDX1 188delC/188delC antral organoids convert to an intestinal phenotype, while intestinal organoids undergo gastric metapla...

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Literature Corpus work: e2e027bc-3ac9-559d-bc78-29267bbd9a0f
DOI: 10.1101/2021.04.25.441341

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