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 tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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. / Hey, Caroline Amalie Brunbjerg; Larsen, Lasse Jonsgaard; Tümer, Zeynep; Brøndum-Nielsen, Karen; Grønskov, Karen; Hjortshøj, Tina Duelund; Møller, Lisbeth Birk.
I: Stem Cell Research, Bind 41, 101594, 2019.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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
PY - 2019
Y1 - 2019
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
C2 - 31760295
AN - SCOPUS:85075217361
VL - 41
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
M1 - 101594
ER -
ID: 238435399