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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 - 1 Mar 2026

Patil Soha, Patel Naresh, Makwana Rikhil, Nikte Manali, Moroziewicz Dorota, Zimmer Matt, Hunter Christopher, Monsma Frederick J, Paull Daniel, Wesely Josephine, Lyon Gholson J

Abstract excerpt

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...

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Identifiers

PMID: 41548501
DOI: 10.1016/j.scr.2025.103901
PMCID: PMC12994384

Genes

NAA10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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