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 tidsskriftTidsskriftartikelForskningpeer review

Resumé

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).
OriginalsprogEngelsk
TidsskriftStem Cell Research
Vol/bind31
Sider (fra-til)235-239
Antal sider5
ISSN1873-5061
DOI
StatusUdgivet - 10 aug. 2018
Udgivet eksterntJa

Citer dette

Hey, Amalie Brunbjerg ; Saltõkowa, Katarina Beata ; Larsen, Lasse Jonsgaard ; Tümer, Zeynep ; Brøndum-Nielsen, Karen ; Grønskov, Karen ; Duelund Hjortshøj, Tina ; 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.
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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).",
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 = "8",
day = "10",
doi = "10.1016/j.scr.2018.08.005",
language = "English",
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journal = "Stem Cell Research",
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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; Tümer, Zeynep; Brøndum-Nielsen, Karen; Grønskov, Karen; Duelund Hjortshøj, Tina; Møller, Lisbeth Birk.

I: Stem Cell Research, Bind 31, 10.08.2018, s. 235-239.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer 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

VL - 31

SP - 235

EP - 239

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

ER -