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

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

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 pro...

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Bibliographic Details
Main Authors: Caroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Format: Article
Language:English
Published: Elsevier 2019-12-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119302247

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http://www.sciencedirect.com/science/article/pii/S1873506119302247

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