{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Wesely J"],"funding":["NCATS NIH HHS","NIGMS NIH HHS"],"pubmed_abstract":["Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosolic proteins in humans. The human essential gene, <i>NAA10,</i> encodes the enzyme NAA10, as the catalytic subunit for the N-terminal acetyltransferase A (NatA) complex, including the accessory protein, NAA15. The first human disease directly involving <i>NAA10</i> was discovered in 2011, and it was named Ogden syndrome (OS), after the location of the first affected family residing in Ogden, Utah, USA. Since that time, other variants have been found in <i>NAA10</i> and <i>NAA15</i>. Here we describe the generation of 31 iPSC lines, with 16 from females and 15 from males. This cohort includes CRISPR-mediated correction to the wild-type genotype in 4 male lines, along with editing one female line "],"journal":["bioRxiv : the preprint server for biology"],"pagination":["2024.09.28.615067"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11463393"],"repository":["biostudies-literature"],"pubmed_title":["A repository of Ogden syndrome patient derived iPSC lines and isogenic pairs by X-chromosome screening and genome-editing."],"pmcid":["PMC11463393"],"funding_grant_id":["UM1 TR004409","R35 GM133408"],"pubmed_authors":["Nikte M","Sapar M","McKenzie D","Monsma FJ","Marchi E","Wesely J","Hartley B","NYSCF Global Stem Cell Array® Team","Bauer L","Chen YR","Maguire C","Moroziewicz D","Lee JT","Paull D","Franklin S","Patil S","Lyon GJ","Yim MK","Makwana R","Rusielewicz T","Bia R"],"additional_accession":[]},"is_claimable":false,"name":"A repository of Ogden syndrome patient derived iPSC lines and isogenic pairs by X-chromosome screening and genome-editing.","description":"Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosolic proteins in humans. The human essential gene, <i>NAA10,</i> encodes the enzyme NAA10, as the catalytic subunit for the N-terminal acetyltransferase A (NatA) complex, including the accessory protein, NAA15. The first human disease directly involving <i>NAA10</i> was discovered in 2011, and it was named Ogden syndrome (OS), after the location of the first affected family residing in Ogden, Utah, USA. Since that time, other variants have been found in <i>NAA10</i> and <i>NAA15</i>. Here we describe the generation of 31 iPSC lines, with 16 from females and 15 from males. This cohort includes CRISPR-mediated correction to the wild-type genotype in 4 male lines, along with editing one female line ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Sep","modification":"2026-04-08T18:35:49.082Z","creation":"2025-04-04T02:45:36.201Z"},"accession":"S-EPMC11463393","cross_references":{"pubmed":["39386428"],"doi":["10.1101/2024.09.28.615067"]}}