Generation of the iPSC line CUIMCi003-A derived from a patient with severe early onset obesity


Aryl hydrocarbon receptor nuclear translocator 2 (ARNT2) is a basic helix-loop-helix (bHLH/PAS) transcription factor involved in the development of paraventricular nucleus of the hypothalamus (PVH) through the heterodimerization with Single-minded 1 (SIM1) (Michaud et al., 2000). Using a Sendai virus-based approach, the four reprogramming factors OCT3/4, SOX2, KLF4 and C-MYC were delivered into Peripheral Blood Mononuclear Cell (PBMCs) from a 14-year-old girl with early onset obesity carrying a de novo variant (p.P130A) in ARNT2. The resulting iPSC line CUIMCi003-A had a normal karyotype, showed pluripotency and three germ layer differentiation capacity in vitro and was heterozygous for the de novo ARNT2 variant. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Iannello G, Patel A, Sirabella D, Corneo B, Thaker V
Journal Stem cell research
Publication Date 2021 Jul;54:102432
PubMed 34214899
PubMed Central PMC8340056
DOI 10.1016/j.scr.2021.102432

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