iPSC-based hepatic organoids reveal a heterozygous MYO5B variant as driver of intrahepatic cholestasis
iPSC-based organoids serve as an authentic model for functional assessment of the hepatobiliary transport with fluorescent substrates. This allows the characterization of variants of uncertain significance and other variants in cholestasis-associated genes and revealed that a heterozygous MYO5B variant increases the susceptibility to defective hepatobiliary BSEP-mediated transport.
Authors
- Tom Luedde (ORCID: https://orcid.org/0000-0002-6288-8821)
- Erika Gebel
- Malte Sgodda (ORCID: https://orcid.org/0000-0002-3945-1517)
- Reto Eggenschwiler (ORCID: https://orcid.org/0000-0003-3588-7847)
- Tobias Cantz (ORCID: https://orcid.org/0000-0002-1382-9577)
- Carola Dröge (ORCID: https://orcid.org/0000-0001-7634-5134)
- Iréne Esposito (ORCID: https://orcid.org/0000-0002-0554-2402)
- Amelie Stalke (ORCID: https://orcid.org/0000-0002-8438-8692)
- Susanne Alfken
- Verena Keitel (ORCID: https://orcid.org/0000-0003-1383-7662)
- Eva‐Doreen Pfister (ORCID: https://orcid.org/0000-0003-2446-4304)
- Ulrich Baumann
- Lennart Dignas
Institutions
- Medizinische Hochschule Hannover (DE)
- Düsseldorf University Hospital (DE)
- Heinrich Heine University Düsseldorf (DE)
- Otto-von-Guericke-Universität Magdeburg (DE)
Publication Details
- Journal
- Hepatology Communications
- Published
- 2025-09-29
- DOI
- https://doi.org/10.1097/hc9.0000000000000812
- Citations
- 2
- Primary Topic
- Pediatric Hepatobiliary Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 4.01