Human induced pluripotent stem cell line (ONHi001-A) generated from a patient with infantile neuroaxonal dystrophy having PLA2G6 c.517C > T (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous mutations
Summary
Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disease caused mainly by homozygous or compound heterozygous mutations in the PLA2G6 gene. We generated a human induced pluripotent stem cell (hiPSC) line (ONHi001-A) using fibroblasts derived from a patient with INAD. The patient exhibited c.517C > T (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous mutations in the PLA2G6 gene. This hiPSC line may be useful for studying the pathogenic mechanism underlying INAD. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Fukusumi H, Togo K, Beck G, Shofuda T, Kanematsu D, Yamamoto A, Sumida M, Baba K, Mochizuki H, Kanemura Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Jun;69:103122 |
| PubMed | 37209469 |
| DOI | 10.1016/j.scr.2023.103122 |