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
Year: 2026
Type: article
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).
Source: Stem Cell Research
Authors: Soha Patil, Naresh Patel, Rikhil Makwana, Manali Nikte, Dorota Moroziewicz, Matt Zimmer, Christopher Hunter, Frederick J. Monsma, Daniel Paull, Josephine Wesely, Gholson J. Lyon
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,360
OpenAlex ID: W7118530429