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Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous <i>HNF1B</i> -associated dysplastic kidney malformations

2023-03-15

Abstract excerpt

<h4>ABSTRACT</h4> Hepatocyte nuclear factor 1B ( HNF1B ) encodes a transcription factor expressed in developing human kidney epithelia. Heterozygous HNF1B mutations are the commonest monogenic cause of dysplastic kidney malformations (DKMs). To understand their pathobiology, we generated heterozygous HNF1B mutant kidney organoids from CRISPR-Cas9 gene-edited human ESCs and iPSCs reprogrammed from a family with...

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Literature Corpus work: 76927acd-6f96-5bca-b2a0-ebdf7068a4d5
DOI: 10.1101/2023.03.14.532598

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