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

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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; Tümer, Zeynep; Brøndum-Nielsen, Karen; Grønskov, Karen; Hjortshøj, Tina Duelund; Møller, Lisbeth Birk.

I: Stem Cell Research, Bind 33, 2018, s. 46-50.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Hey, CAB, Saltõkowa, KB, Larsen, LJ, Tümer, Z, Brøndum-Nielsen, K, Grønskov, K, Hjortshøj, TD & Møller, LB 2018, 'Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT', Stem Cell Research, bind 33, s. 46-50. https://doi.org/10.1016/j.scr.2018.09.013

APA

Hey, C. A. B., Saltõkowa, K. B., Larsen, L. J., Tümer, Z., Brøndum-Nielsen, K., Grønskov, K., Hjortshøj, T. D., & Møller, L. B. (2018). Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT. Stem Cell Research, 33, 46-50. https://doi.org/10.1016/j.scr.2018.09.013

Vancouver

Hey CAB, Saltõkowa KB, Larsen LJ, Tümer Z, Brøndum-Nielsen K, Grønskov K o.a. Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT. Stem Cell Research. 2018;33:46-50. https://doi.org/10.1016/j.scr.2018.09.013

Author

Hey, Caroline Amalie Brunbjerg ; Saltõkowa, Katarina Beata ; Larsen, Lasse Jonsgaard ; Tümer, Zeynep ; Brøndum-Nielsen, Karen ; Grønskov, Karen ; Hjortshøj, Tina Duelund ; Møller, Lisbeth Birk. / Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT. I: Stem Cell Research. 2018 ; Bind 33. s. 46-50.

Bibtex

@article{c6fa0321f91b4113ba1ee8dfc61ebc71,

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. Resource table.",

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",

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

language = "English",

volume = "33",

pages = "46--50",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

}

RIS

TY - JOUR

T1 - Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT

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

Y1 - 2018

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. Resource table.

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. Resource table.

U2 - 10.1016/j.scr.2018.09.013

DO - 10.1016/j.scr.2018.09.013

M3 - Journal article

C2 - 30312873

VL - 33

SP - 46

EP - 50

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

ER -

ID: 218090087