Article
Generation and genetic repair of 2 iPSC clones from a patient bearing a heterozygous c.1120del18 mutation in the ACVRL1 gene leading to Hereditary Hemorrhagic Telangiectasia (HHT) type 2.
Stem cell research - 1 Jul 2020
Bouma Marga J, Orlova Valeria, van den Hil Francijna E, Mager Hans-Jurgen, Baas Frank, de Knijff Peter, Mummery Christine L, Mikkers Harald, Freund Christian
Abstract excerpt
Fibroblasts from a patient carrying a heterozygous 18bp deletion in exon 8 of the ACVRL1 gene (c.1120del18) were reprogrammed using episomal vectors. The in-frame deletion in ACVRL1 causes the loss of 6 amino acids of the protein, which is associated with Hereditary Hemorrhagic Telangiectasia (HHT) type 2 (Letteboer et al., 2005). CRISPR-Cas9 editing was used to genetically correct the mutation in the induced...
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