Generation of ENG p.Met1Val mutant LUMCi029-A-2 for modeling Hereditary Hemorrhagic Telangiectasia type 1.

Abstract excerpt

Hereditary Hemorrhagic Telangiectasia type I (HHT1) is an autosomal dominant vascular disease caused by pathogenic variants in endoglin (ENG) gene. It is located on chromosome 9 and encodes for the Endoglin protein, which is involved in the TGFb/BMP signalling pathway. Using CRISPR/Cas9-mediated gene editing, the ENG c.1A > G mutation was introduced in homozygous form in the well-characterized LUMCi029-A line....

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• Cell Differentiation
• Cell Line
• CRISPR-Cas Systems
• Endoglin
• ENG gene