Abstract
Four disease-specific induced pluripotent stem cell (iPSC) lines were respectively derived from peripheral blood mononuclear cells of two affected individuals in a family affected by familial neurohypophyseal diabetes insipidus carrying the c.314G>C mutation. The expression of pluripotency markers (NANOG, OCT4, and SOX2), maintenance of a normal karyotype, absence of episomal vectors used for iPSC generation, and presence of the original pathogenic mutation were confirmed for each iPSC line. The ability to differentiate into three germ layers was confirmed by a teratoma formation assay. These iPSC lines can help in disease recapitulation in vitro using organoids and elucidation of disease mechanisms.
Highlights
Four disease-specific induced pluripotent stem cell lines were respectively derived from peripheral blood mononuclear cells of two affected individuals in a family affected by familial neurohypophyseal diabetes insipidus carrying the c.314G > C mutation
The generated Familial neurohypophyseal diabetes insipidus (FNDI)-induced pluripotent stem cell (iPSC) can be useful for disease recapitulation in vitro using the hypothalamic-pituitary unit of organoids (Kasai et al, 2020; Suga, 2016), along with elucidation of the pathology and drug discovery Table 1
FNDI is a progressive form of diabetes insipidus caused by mutation in the AVP gene, which encodes a preproprotein including the antidiuretic hormone arginine vasopressin (AVP), AVP carrier protein neurophysin 2, and copeptin
Summary
December 2019 https://hpscreg.eu/cell-line/FHUi003-A https://hpscreg.eu/cell-line/FHUi003-B https://hpscreg.eu/cell-line/FHUi004-A https://hpscreg.eu/cell-line/FHUi004-B Ethics Committee of Fujita Health University School of Medicine (approval number HG19-062). Ethical Committee of Nagoya University Hospital (approval number 2018-006-4). Ethical Committee of Mitoyo General Hospital (approval number 18CR01-067). All animal experiments were approved by the Animal Care and Use Committee of KATAGIRI VMD OFFICE (approval number FHU19-1). FNDI-iPS-A1b, A1b2as (FHUi003-A) FNDI-iPS-A11b, A11b (FHUi003-B) FNDI-iPS-B3a, B3a (FHUi004-A) FNDI-iPS-B7a, B7as (FHUi004-B). Japanese Japanese Japanese Japanese c.314G > C, heterozygous c.314G > C, heterozygous c.314G > C, heterozygous c.314G > C, heterozygous
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