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Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene.

Abstract Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is caused by variants in the arginine vasopressin (AVP) gene. Here we report the generation of induced pluripotent stem cells (iPSCs) from a 42-year-old man carrying an adFNDI causing variant in exon 1 of the AVP gene using lentivirus-mediated nuclear reprogramming. The iPSCs carried the expected variant in the AVP gene. Furthermore, the iPSCs expressed pluripotency markers; displayed in vitro differentiation potential to the three germ layers and had a normal karyotype consistent with the original fibroblasts. This iPSC line is useful in future studies focusing on the pathogenesis of adFNDI.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title stem cell research
Publication Year Start




PMID- 28413003
OWN - NLM
STAT- In-Process
DA  - 20170417
LR  - 20170417
IS  - 1876-7753 (Electronic)
IS  - 1873-5061 (Linking)
VI  - 19
DP  - 2017 Mar
TI  - Induced pluripotent stem cells derived from a patient with autosomal dominant
      familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene.
PG  - 37-42
LID - S1873-5061(16)30222-7 [pii]
LID - 10.1016/j.scr.2016.12.021 [doi]
AB  - Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is
      caused by variants in the arginine vasopressin (AVP) gene. Here we report the
      generation of induced pluripotent stem cells (iPSCs) from a 42-year-old man
      carrying an adFNDI causing variant in exon 1 of the AVP gene using
      lentivirus-mediated nuclear reprogramming. The iPSCs carried the expected variant
      in the AVP gene. Furthermore, the iPSCs expressed pluripotency markers; displayed
      in vitro differentiation potential to the three germ layers and had a normal
      karyotype consistent with the original fibroblasts. This iPSC line is useful in
      future studies focusing on the pathogenesis of adFNDI.
CI  - Copyright (c) 2016 The Authors. Published by Elsevier B.V. All rights reserved.
FAU - Toustrup, Lise Bols
AU  - Toustrup LB
AD  - Department of Paediatrics, Aarhus University Hospital, Palle Juul-Jensens
      Boulevard 99, 8200 Aarhus N, Denmark.
FAU - Zhou, Yan
AU  - Zhou Y
AD  - Department of Biomedicine, Aarhus University, Bartholins Alle 6, 8000 Aarhus C,
      Denmark.
FAU - Kvistgaard, Helene
AU  - Kvistgaard H
AD  - Department of Paediatrics, Aarhus University Hospital, Palle Juul-Jensens
      Boulevard 99, 8200 Aarhus N, Denmark.
FAU - Gregersen, Niels
AU  - Gregersen N
AD  - Research Unit for Molecular Medicine, Aarhus University Hospital, Oluf Palmes
      Alle 49, 8200 Aarhus N, Denmark.
FAU - Rittig, Soren
AU  - Rittig S
AD  - Department of Paediatrics, Aarhus University Hospital, Palle Juul-Jensens
      Boulevard 99, 8200 Aarhus N, Denmark.
FAU - Aagaard, Lars
AU  - Aagaard L
AD  - Department of Biomedicine, Aarhus University, Bartholins Alle 6, 8000 Aarhus C,
      Denmark.
FAU - Corydon, Thomas Juhl
AU  - Corydon TJ
AD  - Department of Biomedicine, Aarhus University, Bartholins Alle 6, 8000 Aarhus C,
      Denmark.
FAU - Luo, Yonglun
AU  - Luo Y
AD  - Department of Biomedicine, Aarhus University, Bartholins Alle 6, 8000 Aarhus C,
      Denmark. Electronic address: [email protected]
FAU - Christensen, Jane H
AU  - Christensen JH
AD  - Department of Biomedicine, Aarhus University, Bartholins Alle 6, 8000 Aarhus C,
      Denmark.
LA  - eng
PT  - Journal Article
DEP - 20161224
PL  - England
TA  - Stem Cell Res
JT  - Stem cell research
JID - 101316957
EDAT- 2017/04/18 06:00
MHDA- 2017/04/18 06:00
CRDT- 2017/04/18 06:00
PHST- 2016/06/29 [received]
PHST- 2016/12/09 [revised]
PHST- 2016/12/15 [accepted]
AID - S1873-5061(16)30222-7 [pii]
AID - 10.1016/j.scr.2016.12.021 [doi]
PST - ppublish
SO  - Stem Cell Res. 2017 Mar;19:37-42. doi: 10.1016/j.scr.2016.12.021. Epub 2016 Dec
      24.

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