Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations

Jens Schuster, Ambrin Fatima, Franziska Schwarz, Joakim Klar, Loora Laan, Niklas Dahl

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

Abstract

Von Hippel-Lindau (VHL) syndrome is a familial cancer syndrome caused by mutations in the tumor suppressor gene VHL. We generated human iPSC lines from primary dermal fibroblasts of three VHL syndrome patients carrying distinct VHL germ line mutations (c.194C>G, c.194C>T and nt440delTCT, respectively). Characterization of the iPSC lines confirmed expression of pluripotency markers, trilineage differentiation potential and absence of exogenous vector expression. The three hiPSC lines were genetically stable and retained the VHL mutation of each donor. These iPSC lines, the first derived from VHL syndrome patients, offer a useful resource to study disease pathophysiology and for anti-cancer drug development.

Original languageEnglish
Article number101474
JournalStem Cell Research
Volume38
DOIs
Publication statusPublished - Jul 2019
Externally publishedYes

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