Generation and characterization of human iPSC lines derived from a Primary Hyperoxaluria Type I patient with p.I244T mutation
Zapata-Linares N (1), Rodriguez S (1), Salido E (2), Abizanda G (1), Iglesias E (1), Prosper F (3), Gonzalez-Aseguinolaza G (4), Rodriguez-Madoz JR (5).
In this work we describe for the first time the generation and characterization of human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells (PBMCs) and dermal fibroblasts of a Primary Hyperoxaluria Type I (PH1)-diagnosed patient with p.I244T mutation, which is highly prevalent in Canary Islands due to founder effect.
Cell reprogramming was performed using non-integrative Sendai viruses containing the Yamanaka factors and the generated PH1-hiPSC lines (PH1-PBMCs-hiPSC4F1 and PH1-Fib-hiPSC4F1) showed normal karyotypes, silencing of the exogenous reprogramming factors, induction of the typical pluripotency-associated markers and in vivo differentiation ability to the three germ layers.
CITATION Stem Cell Res. 2016 Jan;16(1):116-9. doi: 10.1016/j.scr.2015.12.014. Epub 2015 Dec 28.