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Consequences of aneuploidy in human fibroblasts

ABSTRACT: To characterize aneuploidy driven phenotypes in human trisomies, we performed global transcriptome, proteome, and phenotypic analysis of primary human fibroblasts from individuals with Patau (trisomy 13), Edwards (trisomy 18), or Down syndromes.

INSTRUMENT(S): Orbitrap Fusion

ORGANISM(S): Homo Sapiens (ncbitaxon:9606)

SUBMITTER: Noah Dephoure

PROVIDER: MSV000085706 | MassIVE | Thu Jul 09 11:14:00 BST 2020

REPOSITORIES: MassIVE

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Publications

Consequences of aneuploidy in human fibroblasts with trisomy 21.

Hwang Sunyoung S Cavaliere Paola P Li Rui R Zhu Lihua Julie LJ Dephoure Noah N Torres Eduardo M EM

Proceedings of the National Academy of Sciences of the United States of America 20210201 6

An extra copy of chromosome 21 causes Down syndrome, the most common genetic disease in humans. The mechanisms contributing to aneuploidy-related pathologies in this syndrome, independent of the identity of the triplicated genes, are not well defined. To characterize aneuploidy-driven phenotypes in trisomy 21 cells, we performed global transcriptome, proteome, and phenotypic analyses of primary human fibroblasts from individuals with Patau (trisomy 13), Edwards (trisomy 18), or Down syndromes. O ...[more]

PMID: 33526671

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