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Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant.

Stem cell research - 1 Dec 2019

Hey Caroline Amalie Brunbjerg, Larsen Lasse Jonsgaard, Tümer Zeynep, Brøndum-Nielsen Karen, Grønskov Karen, Hjortshøj Tina Duelund, Møller Lisbeth Birk

Abstract excerpt

Bardet-Biedl syndrome (BBS), an autosomal recessive disease, is associated with non-functional primary cilia. BBS5 is part of the protein complex termed the BBSome. The BBSome associates with intra flagellar transport (IFT) particles and mediates trafficking of membrane proteins in the cilium, a process important for cilia-mediated signal transduction. Here we describe the generation of three induced pluripotent...

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PMID: 31760295
DOI: 10.1016/j.scr.2019.101594

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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