Generation of a male isogenic pair and a female isogenic pair(R83C) for studying NAA10-related syndrome as part of a large Ogden syndrome biobank
Summary
Ogden Syndrome, also known as NAA10-related neurodevelopmental disorder, is an X-linked disease caused by pathologic variants in NAA10, the catalytic sub-unit of the NatA N-α-terminal acetyltransferase, and characterized by variable neurologic, behavioral, and cardiovascular deficits. We present the generation of 2 isogenic pairs of patient-derived iPSCs having a R83C mutation in NAA10. A male hemizygous NAA10 line which was corrected to WT, and a female heterozygous which was edited to be WT/WT as well as R83C/R83C. Combined with the published cohort of >30 NAA10-related syndrome patient iPSC lines and isogenic pairs it represents a powerful cohort to investigate NAA10-related syndrome (Wesely et al., 2024). Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Patil S, Patel N, Makwana R, Nikte M, Moroziewicz D, NYSCF Global Stem Cell Array® Team, Zimmer M, Hunter C, Monsma FJ Jr, Paull D, Wesely J, Lyon GJ |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Mar;91:103901 |
| PubMed | 41548501 |
| PubMed Central | PMC12994384 |
| DOI | 10.1016/j.scr.2025.103901 |