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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

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@article{5a1e881c53224628a77322688c376212,
title = "Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant",
abstract = "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.",
author = "Hey, {Caroline Amalie Brunbjerg} and Larsen, {Lasse Jonsgaard} and Zeynep T{\"u}mer and Karen Br{\o}ndum-Nielsen and Karen Gr{\o}nskov and Hjortsh{\o}j, {Tina Duelund} and M{\o}ller, {Lisbeth Birk}",
note = "Copyright {\circledC} 2019. Published by Elsevier B.V.",
year = "2019",
month = "12",
doi = "10.1016/j.scr.2019.101594",
language = "English",
volume = "41",
pages = "101594",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Elsevier BV",

}

RIS

TY - JOUR

T1 - Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant

AU - Hey, Caroline Amalie Brunbjerg

AU - Larsen, Lasse Jonsgaard

AU - Tümer, Zeynep

AU - Brøndum-Nielsen, Karen

AU - Grønskov, Karen

AU - Hjortshøj, Tina Duelund

AU - Møller, Lisbeth Birk

N1 - Copyright © 2019. Published by Elsevier B.V.

PY - 2019/12

Y1 - 2019/12

N2 - 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.

AB - 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.

U2 - 10.1016/j.scr.2019.101594

DO - 10.1016/j.scr.2019.101594

M3 - Journal article

VL - 41

SP - 101594

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

ER -

ID: 58940840