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

Research output: Contribution to journal › Journal article › Research › peer-review

1 Citation (Scopus)

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).

Original language	English
Journal	Stem Cell Research
Volume	31
Pages (from-to)	235-239
Number of pages	5
ISSN	1873-5061
DOIs	https://doi.org/10.1016/j.scr.2018.08.005
Publication status	Published - 10 Aug 2018
Externally published	Yes

Access to Document

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

Citation Styles

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, vol. 31, pp. 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.
In: Stem Cell Research, Vol. 31, 10.08.2018, p. 235-239.

Research output: Contribution to journal › Journal article › Research › 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 -