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Changes in the proteome of human induced pluripotent stem cells derived endothelial cells with CRISPR/Cas9 induced monoallelic and biallelic mutation of the HNF1A gene

ABSTRACT: Maturity 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).

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Endothelial Cell

DISEASE(S): Maturity-onset Diabetes Of The Young Type 3

SUBMITTER: Neli Kachamakova-Trojanowska

LAB HEAD: Neli Kachamakova-Trojanowska

PROVIDER: PXD039471 | Pride | 2026-03-01

REPOSITORIES: Pride

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