TY - JOUR
T1 - Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations
AU - Schuster, Jens
AU - Fatima, Ambrin
AU - Schwarz, Franziska
AU - Klar, Joakim
AU - Laan, Loora
AU - Dahl, Niklas
N1 - Funding Information:
We thank the study participants. This work was supported by the Swedish Research Council 2015-02424 (to ND), Hjärnfonden FO2018-0100 (to ND) and the Sävstaholm Society (to LL). Image acquisition and flow cytometry were performed at the BioVis Platform and scorecard processing at the Genome Centre platform, Science for Life Laboratory, Uppsala University.
Publisher Copyright:
© 2019
PY - 2019/7
Y1 - 2019/7
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85066753971&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2019.101474
DO - 10.1016/j.scr.2019.101474
M3 - Article
C2 - 31176917
AN - SCOPUS:85066753971
SN - 1873-5061
VL - 38
JO - Stem Cell Research
JF - Stem Cell Research
M1 - 101474
ER -
