Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C

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.2018.08.005

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C

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

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

Abstract

Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with a wide range of symptoms including obesity, retinal dystrophy, polycystic kidney disease, polydactyly, hypogonadism and learning difficulties. Here we describe the successful generation of an induced pluripotent stem cell (iPSC) KCi001-A from a BBS patient compound heterozygous for two disease causing BBS1 variants c.1169T>G, p. (Met390Arg)/c.1135G>C, p.(Gly370Arg).

Originalsprog	Engelsk
Tidsskrift	Stem Cell Research
Vol/bind	31
Sider (fra-til)	235-239
Antal sider	5
ISSN	1873-5061
DOI	https://doi.org/10.1016/j.scr.2018.08.005
Status	Udgivet - 10 aug. 2018
Udgivet eksternt	Ja

Link til dokument

10.1016/j.scr.2018.08.005Licens: CC BY-NC-ND

Citer dette

Hey, A. B., Saltõkowa, K. B., Larsen, L. J., Tümer, Z., Brøndum-Nielsen, K., Grønskov, K., Duelund Hjortshøj, T., & Møller, L. B. (2018). Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C. Stem Cell Research, 31, 235-239. https://doi.org/10.1016/j.scr.2018.08.005

@article{5098c3fa38764addaa8f96c18956cbdb,

title = "Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C",

abstract = "Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with a wide range of symptoms including obesity, retinal dystrophy, polycystic kidney disease, polydactyly, hypogonadism and learning difficulties. Here we describe the successful generation of an induced pluripotent stem cell (iPSC) KCi001-A from a BBS patient compound heterozygous for two disease causing BBS1 variants c.1169T>G, p. (Met390Arg)/c.1135G>C, p.(Gly370Arg).",

author = "Hey, {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 {Duelund Hjortsh{\o}j}, Tina and M{\o}ller, {Lisbeth Birk}",

year = "2018",

month = aug,

day = "10",

doi = "10.1016/j.scr.2018.08.005",

language = "English",

volume = "31",

pages = "235--239",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier BV",

}

Hey, AB, Saltõkowa, KB, Larsen, LJ, Tümer, Z, Brøndum-Nielsen, K, Grønskov, K, Duelund Hjortshøj, T & Møller, LB 2018, 'Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C', Stem Cell Research, bind 31, s. 235-239. https://doi.org/10.1016/j.scr.2018.08.005

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C. / Hey, Amalie Brunbjerg; Saltõkowa, Katarina Beata; Larsen, Lasse Jonsgaard et al.
I: Stem Cell Research, Bind 31, 10.08.2018, s. 235-239.

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

TY - JOUR

T1 - Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C

AU - Hey, Amalie Brunbjerg

AU - Saltõkowa, Katarina Beata

AU - Larsen, Lasse Jonsgaard

AU - Tümer, Zeynep

AU - Brøndum-Nielsen, Karen

AU - Grønskov, Karen

AU - Duelund Hjortshøj, Tina

AU - Møller, Lisbeth Birk

PY - 2018/8/10

Y1 - 2018/8/10

N2 - Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with a wide range of symptoms including obesity, retinal dystrophy, polycystic kidney disease, polydactyly, hypogonadism and learning difficulties. Here we describe the successful generation of an induced pluripotent stem cell (iPSC) KCi001-A from a BBS patient compound heterozygous for two disease causing BBS1 variants c.1169T>G, p. (Met390Arg)/c.1135G>C, p.(Gly370Arg).

AB - Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with a wide range of symptoms including obesity, retinal dystrophy, polycystic kidney disease, polydactyly, hypogonadism and learning difficulties. Here we describe the successful generation of an induced pluripotent stem cell (iPSC) KCi001-A from a BBS patient compound heterozygous for two disease causing BBS1 variants c.1169T>G, p. (Met390Arg)/c.1135G>C, p.(Gly370Arg).

U2 - 10.1016/j.scr.2018.08.005

DO - 10.1016/j.scr.2018.08.005

M3 - Journal article

SN - 1873-5061

VL - 31

SP - 235

EP - 239

JO - Stem Cell Research

JF - Stem Cell Research

ER -