Establishment of an iPSC line (BCHNDi001-A) from a patient with nicotinamide nucleotide repair system deficiency caused by biallelic NAXD mutations
Summary
NAD(P)HX dehydratase (NAXD) gene is one of the key enzymes encoding the nicotinamide nucleotide repair system, reportedly associated with Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 (PEBEL2). Here, we generated an induced pluripotent stem cell (iPSC) line from the dermal fibroblasts (HDFs) of a PEBEL2 patient who carried biallelic mutations, c.101_102delTA(p.Thr35Phefs*63) and c.318C > G (p.Ile160Met) in NAXD. These iPSCs showed stable amplification in vitro, expressed pluripotent markers, and differentiated spontaneously into three germ layers, as well as NAXD mutations with normal karyotype. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Xu C, Zhou L, Jiang H, Song T, Liu Z, Duan X, Fang F |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Apr;76:103346 |
| PubMed | 38387170 |
| DOI | 10.1016/j.scr.2024.103346 |