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

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Schuster J, Fatima A, Schwarz F, Klar J, Laan L, Dahl N

Stem Cell Res 38 (-) 101474 [2019-07-00; online 2019-05-30]

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.

PubMed 31176917

DOI 10.1016/j.scr.2019.101474

Crossref 10.1016/j.scr.2019.101474

pii: S1873-5061(19)30104-7