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

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.2018.08.005

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

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

Department of Clinical Medicine

1 Citation (Scopus)

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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
ISSN	1873-5061
DOIs	https://doi.org/10.1016/j.scr.2018.08.005
Publication status	Published - Aug 2018

Keywords

Bardet-Biedl Syndrome/genetics
Female
Genotype
Humans
Induced Pluripotent Stem Cells/metabolism
Microtubule-Associated Proteins/genetics
Mutation

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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

1-s2.0-S1873506118301971-main (1)Final published version, 1.05 MBLicence: CC BY-NC-ND

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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, 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

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, Caroline Amalie Brunbjerg; Saltõkowa, Katarina Beata; Larsen, Lasse Jonsgaard et al.

In: Stem Cell Research, Vol. 31, 08.2018, p. 235-239.

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

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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).",

keywords = "Bardet-Biedl Syndrome/genetics, Female, Genotype, Humans, Induced Pluripotent Stem Cells/metabolism, Microtubule-Associated Proteins/genetics, Mutation",

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year = "2018",

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

language = "English",

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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 - 2018/8

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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).

KW - Bardet-Biedl Syndrome/genetics

KW - Female

KW - Genotype

KW - Humans

KW - Induced Pluripotent Stem Cells/metabolism

KW - Microtubule-Associated Proteins/genetics

KW - Mutation

U2 - 10.1016/j.scr.2018.08.005

DO - 10.1016/j.scr.2018.08.005

M3 - Journal article

C2 - 30142598

SN - 1873-5061

VL - 31

SP - 235

EP - 239

JO - Stem Cell Research

JF - Stem Cell Research

ER -

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

Keywords

UN SDGs

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