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Article

Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms.

American journal of human genetics - 3 May 2018

Forbes Thomas A, Howden Sara E, Lawlor Kynan, Phipson Belinda, Maksimovic Jovana, Hale Lorna, Wilson Sean, Quinlan Catherine, Ho Gladys, Holman Katherine, Bennetts Bruce, Crawford Joanna, Trnka Peter, Oshlack Alicia, Patel Chirag, Mallett Andrew, Simons Cas, Little Melissa H

Abstract excerpt

Despite the increasing diagnostic rate of genomic sequencing, the genetic basis of more than 50% of heritable kidney disease remains unresolved. Kidney organoids differentiated from induced pluripotent stem cells (iPSCs) of individuals affected by inherited renal disease represent a potential, but unvalidated, platform for the functional validation of novel gene variants and investigation of underlying...

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PMID: 29706353
DOI: 10.1016/j.ajhg.2018.03.014
PMCID: PMC5986969

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