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Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations.

Stem cell reports - 11 Jun 2024

Bantounas Ioannis, Rooney Kirsty M, Lopes Filipa M, Tengku Faris, Woods Steven, Zeef Leo A H, Lin I-Hsuan, Kuba Shweta Y, Bates Nicola, Hummelgaard Sandra, Hillman Katherine A, Cereghini Silvia, Woolf Adrian S, Kimber Susan J

Abstract excerpt

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 embryonic stem cells (ESCs) and induced pluripotent stem cells...

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Identifiers

PMID: 38788724
DOI: 10.1016/j.stemcr.2024.04.011
PMCID: PMC11297557

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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