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PXD039471-1

PXD039471 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleChanges in the proteome of human induced pluripotent stem cells derived endothelial cells with CRISPR/Cas9 induced monoallelic and biallelic mutation of the HNF1A gene
DescriptionMaturity onset diabetes of the young (MODY) is caused by a mutation in a single gene and leads to diabetes under the age of 25. The mutations in HNF1A gene (leading to HNF1A-MODY) cause about 70% of all MODY cases. It was shown that patients with HNF1A-MODY often develop diabetic microvascular complications, related to endothelial dysfunction, however, it is not clear whether these complications are the result of hyperglycemia or due to the genetic mutation in HNF1A gene. For analysis, monoallelic (MAC) and biallelic (BAC) mutants in the HNF1A gene were used for comparative proteomics to the isogenic control (hiPSCs-EC).
HostingRepositoryPRIDE
AnnounceDate2026-03-01
AnnouncementXMLSubmission_2026-03-01_10:38:30.307.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterNeli Kachamakova-Trojanowska
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606;
ModificationListNo PTMs are included in the dataset
InstrumentQ Exactive HF
Dataset History
RevisionDatetimeStatusChangeLog Entry
02023-01-16 08:16:44ID requested
12026-03-01 10:38:30announced
Publication List
10.1186/S13073-026-01615-Z;
Keyword List
submitter keyword: Maturity onset diabetes of the young, endothelial cells,HNF1A-MODY, iPSCs-EC
Contact List
Neli Kachamakova-Trojanowska
contact affiliationMolecular Mechanisms of Disease Research Group, Malopolska Centre of Biotechnology, Jagiellonian University, 30-387 Krakow, Poland
contact emailneli.kachamakova-trojanowska@uj.edu.pl
lab head
Neli Kachamakova-Trojanowska
contact affiliationMalopolska Centre of Biotechnology, Jagiellonian University
contact emailneli.kachamakova-trojanowska@uj.edu.pl
dataset submitter
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Dataset FTP location
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PRIDE project URI
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