Generation of the human induced pluripotent stem cell line (IBKMOLi003-A) from PBMCs of a vascular Ehlers-Danlos syndrome (vEDS) patient carrying the heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene
Author:
Funder
Österreichische Forschungsförderungsgesellschaft mbH
Publisher
Elsevier BV
Reference3 articles.
1. Benrashid, E., Ohman, J.W., 2020. Current management of the vascular subtype of Ehlers-Danlos syndrome. In: Current Opinion in Cardiology (vol. 35, Issue 6, pp. 603–609). Lippincott Williams and Wilkins. https://doi.org/10.1097/HCO.0000000000000797.
2. Chiarelli, N., Ritelli, M., Zoppi, N., Colombi, M., 2019. Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers–danlos syndromes. In: Genes (vol. 10, Issue 8). MDPI AG. https://doi.org/10.3390/genes10080609.
3. Combined CRISPRi/a-based chemical genetic screens reveal that rigosertib is a microtubule-destabilizing agent;Jost;Mol. Cell,2017
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