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Rigshospitalet - en del af Københavns Universitetshospital

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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review


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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 stem cell (iPSC) lines, KCi003-A, KCi003-B and KCi003-C from a patient with BBS and homozygous for the disease causing variant c.214G>A, p.(Gly72Ser) in BBS5. The iPSC lines can be used for investigation of IFT in different cell types differentiated from the iPSC line.

TidsskriftStem Cell Research
Sider (fra-til)101594
StatusUdgivet - dec. 2019

Bibliografisk note

Copyright © 2019. Published by Elsevier B.V.

ID: 58940840