Generation of KCL017 research grade human embryonic stem cell line carrying a mutation in VHL gene

Abstract

The KCL017 human embryonic stem cell line was derived from an embryo donated for research that carried an autosomal dominant mutation affecting splicing site of the VHL gene encoding von Hippel–Lindau tumor suppressor E3 ubiquitin protein ligase (676 + 3 A > T). The ICM was isolated using laser microsurgery and plated on γ-irradiated human foreskin fibroblasts. Both the derivation and cell line propagation were performed in an animal product-free environment. Pluripotent state and differentiation potential were confirmed by in vitro assays.