Advanced cell-based modeling of the royal disease: characterization of the mutated F9 mRNA.

doi:10.1111/jth.13808

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Article

Advanced cell-based modeling of the royal disease: characterization of the mutated F9 mRNA.

Journal of thrombosis and haemostasis : JTH - 1 Nov 2017

Martorell L, Luce E, Vazquez J L, Richaud-Patin Y, Jimenez-Delgado S, Corrales I, Borras N, Casacuberta-Serra S, Weber A, Parra R, Altisent C, Follenzi A, Dubart-Kupperschmitt A, Raya A, Vidal F, Barquinero J

Abstract excerpt

Essentials The Royal disease (RD) is a form of hemophilia B predicted to be caused by a splicing mutation. We generated an iPSC-based model of the disease allowing mechanistic studies at the RNA level. F9 mRNA analysis in iPSC-derived hepatocyte-like cells showed the predicted abnormal splicing. Mutated F9 mRNA level was very low but we also found traces of wild type transcripts. SUMMARY: Background The royal...

Topics

Adolescent
Alternative Splicing
Cell Differentiation
Cell Line
Factor IX
Female
Genetic Predisposition to Disease
Hemophilia B
Hepatocytes
High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Induced Pluripotent Stem Cells

Male

Mutation

Phenotype

RNA, Messenger

Sequence Analysis, RNA

Source

Open in PubMed

Identifiers

PMID: 28834196
DOI: 10.1111/jth.13808

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