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

Stem Cell Research 2026 Open access

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Authors: Soha Patil, Naresh Patel, Rikhil Makwana, Manali Nikte, Dorota N. Moroziewicz, Matt Zimmer, Christopher Hunter, Frederick J. Monsma, Daniel J Paull, Josephine Wesely, Gholson J. Lyon
DOI: 10.1016/j.scr.2025.103901
Cited by: 1
References: 5

Abstract

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).

Fields of Study & Subjects

Peptidase Inhibition and Analysis Protein Kinase Regulation and GTPase Signaling Enzyme Structure and Function

Publication details

Journal / source
Stem Cell Research
Publisher
Elsevier BV
Volume
91
Pages
103901–103901
Publication date
7 January 2026
Language
EN