Generation of four induced pluripotent stem cell lines (FHUi003-A, FHUi003-B, FHUi004-A and FHUi004-B) from two affected individuals of a familial neurohypophyseal diabetes insipidus family


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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Yoshida S, Okura H, Suga H, Soen M, Kawaguchi Y, Kurimoto J, Miyata T, Takagi H, Arima H, Fujikawa T, Otsuka F, Matsuyama A
Journal Stem cell research
Publication Date 2020 Oct;48:101960
PubMed 32927425
DOI 10.1016/j.scr.2020.101960

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