Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT

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

doi:10.1016/j.scr.2018.09.013

Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT

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

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Abstract

Bardet-Biedl syndrome (BBS) is genetically heterogeneous with at least 21 genes involved, and BBS10 encodes, together with BBS6 and BBS12, chaperonin-like proteins which are important for the assembly of the multiprotein complex, the BBSome encoded by other BBS genes. Here we describe the successful generation of an induced pluripotent stem cell (iPSC) line KCi002-A from a male with BBS, homozygous for the disease causing variant c.271insT, p.(Cys91fsX95) in BBS10.

Originalsprog	Engelsk
Tidsskrift	Stem Cell Research
Vol/bind	33
Sider (fra-til)	46-50
ISSN	1873-5061
DOI	https://doi.org/10.1016/j.scr.2018.09.013
Status	Udgivet - dec. 2018

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10.1016/j.scr.2018.09.013Licens: CC BY-NC-ND

1-s2.0-S1873506118302332-mainForlagets udgivne version, 5,08 MBLicens: CC BY-NC-ND

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Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT. / Hey, Caroline Amalie Brunbjerg; Saltõkowa, Katarina Beata; Larsen, Lasse Jonsgaard et al.
I: Stem Cell Research, Bind 33, 12.2018, s. 46-50.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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title = "Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT",

abstract = "Bardet-Biedl syndrome (BBS) is genetically heterogeneous with at least 21 genes involved, and BBS10 encodes, together with BBS6 and BBS12, chaperonin-like proteins which are important for the assembly of the multiprotein complex, the BBSome encoded by other BBS genes. Here we describe the successful generation of an induced pluripotent stem cell (iPSC) line KCi002-A from a male with BBS, homozygous for the disease causing variant c.271insT, p.(Cys91fsX95) in BBS10.",

author = "Hey, {Caroline Amalie Brunbjerg} and Salt{\~o}kowa, {Katarina Beata} 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}",

year = "2018",

month = dec,

doi = "10.1016/j.scr.2018.09.013",

language = "English",

volume = "33",

pages = "46--50",

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AU - Hey, Caroline Amalie Brunbjerg

AU - Saltõkowa, Katarina Beata

AU - Larsen, Lasse Jonsgaard

AU - Tümer, Zeynep

AU - Brøndum-Nielsen, Karen

AU - Grønskov, Karen

AU - Hjortshøj, Tina Duelund

AU - Møller, Lisbeth Birk

PY - 2018/12

Y1 - 2018/12

N2 - Bardet-Biedl syndrome (BBS) is genetically heterogeneous with at least 21 genes involved, and BBS10 encodes, together with BBS6 and BBS12, chaperonin-like proteins which are important for the assembly of the multiprotein complex, the BBSome encoded by other BBS genes. Here we describe the successful generation of an induced pluripotent stem cell (iPSC) line KCi002-A from a male with BBS, homozygous for the disease causing variant c.271insT, p.(Cys91fsX95) in BBS10.

AB - Bardet-Biedl syndrome (BBS) is genetically heterogeneous with at least 21 genes involved, and BBS10 encodes, together with BBS6 and BBS12, chaperonin-like proteins which are important for the assembly of the multiprotein complex, the BBSome encoded by other BBS genes. Here we describe the successful generation of an induced pluripotent stem cell (iPSC) line KCi002-A from a male with BBS, homozygous for the disease causing variant c.271insT, p.(Cys91fsX95) in BBS10.

U2 - 10.1016/j.scr.2018.09.013

DO - 10.1016/j.scr.2018.09.013

M3 - Journal article

C2 - 30312873

SN - 1873-5061

VL - 33

SP - 46

EP - 50

JO - Stem Cell Research

JF - Stem Cell Research

ER -

Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT

Abstract

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