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

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Standard

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

I: Stem Cell Research, Bind 31, 2018, s. 235-239.

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, 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

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, 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

Vancouver

Hey CAB, Saltõkowa KB, Larsen LJ, Tümer Z, Brøndum-Nielsen K, Grønskov K o.a. 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. 2018;31:235-239. https://doi.org/10.1016/j.scr.2018.08.005

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, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C. I: Stem Cell Research. 2018 ; Bind 31. s. 235-239.

Bibtex

@article{7c9083760d444aa2bf51f6cb64a0490b,

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). Resource table.",

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

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.2018.08.005",

language = "English",

volume = "31",

pages = "235--239",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

}

RIS

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, 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 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). Resource table.

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). Resource table.

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

VL - 31

SP - 235

EP - 239

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

ER -

ID: 218090000