{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T06:11:41Z","timestamp":1790316701846,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T00:00:00Z","timestamp":1716422400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes to Cells"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>WT 9\u201012 is one of the cell lines commonly used for autosomal dominant polycystic kidney disease (ADPKD) studies. Previous studies had described the <jats:italic>PKD<\/jats:italic> gene mutations and polycystin expression in WT 9\u201012. Nonetheless, the mutations occurring in other ADPKD\u2010associated genes have not been investigated. This study aims to revisit these mutations and protein profile of WT 9\u201012. Whole genome sequencing verified the presence of truncation mutation at amino acid 2556 (Q2556X) in <jats:italic>PKD1<\/jats:italic> gene of WT 9\u201012. Besides, those variations with high impacts included single nucleotide polymorphisms (rs8054182, rs117006360, and rs12925771) and insertions and deletions (InDels) (rs145602984 and rs55980345) in <jats:italic>PKD1L2<\/jats:italic>; InDel (rs1296698195) in <jats:italic>PKD1L3<\/jats:italic>; and copy number variations in <jats:italic>GANAB<\/jats:italic>. Protein profiles generated from the total proteins of WT 9\u201012 and HK\u20102 cells were compared using isobaric tags for relative and absolute quantitation (iTRAQ) analysis. Polycystin\u20101 was absent in WT 9\u201012. The gene ontology enrichment and reactome pathway analyses revealed that the upregulated and downregulated proteins of WT 9\u201012 relative to HK\u20102 cell line leaded to signaling pathways related to immune response and amino acid metabolism, respectively. The ADPKD\u2010related mutations and signaling pathways associated with differentially expressed proteins in WT 9\u201012 may help researchers in cell line selection for their studies.<\/jats:p>","DOI":"10.1111\/gtc.13129","type":"journal-article","created":{"date-parts":[[2024,5,24]],"date-time":"2024-05-24T02:04:49Z","timestamp":1716516289000},"page":"599-607","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Revisiting the gene mutations and protein profile of <scp>WT<\/scp> 9\u201012: An autosomal dominant polycystic kidney disease cell line"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9752-1459","authenticated-orcid":false,"given":"Hwa Chia","family":"Chai","sequence":"first","affiliation":[{"name":"Department of Biomedical Science, Faculty of Medicine University of Malaya  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rhubaniya","family":"Mahendran","sequence":"additional","affiliation":[{"name":"Department of Biomedical Science, Faculty of Medicine University of Malaya  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kien Chai","family":"Ong","sequence":"additional","affiliation":[{"name":"Department of Biomedical Science, Faculty of Medicine University of Malaya  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kek Heng","family":"Chua","sequence":"additional","affiliation":[{"name":"Department of Biomedical Science, Faculty of Medicine University of Malaya  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.114876.110"},{"key":"e_1_2_6_3_1","article-title":"Identification and characterization of novel mutations in chronic kidney disease (CKD) and autosomal dominant polycystic kidney disease (ADPKD) in Saudi subjects by whole\u2010exome sequencing","volume":"58","author":"Alzahrani O. 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