Establishment of Integration-Free Human Induced Pluripotent Stem Cells from A Patient with Primary Myelofibrosis

Objective: To establish the primary myelofibrosis (PMF)-induced pluripotent stem cell line (iPSC) by means of iPSC techinique so as to provide a experimental model for studying the blood disease mechanisms.

Methods: Induced pluripotent stem cells were generated from mononuclear cells isolated from a PMF patient with JAK2(V617F) mutation by using episomal vectors.

Results: PMF-derived iPSC was established from the patient with JAK2(V617F) gene mutation. The PMF-iPSC could be stably passaged, highly expressed pluripotent genes as human embryonic stem (ES) cells, and were able to form teratoma in NOD/SCID mice in vivo. H & E staining of the teratoma showed the presence of tissue type derived from all three embryonic germ layers. Sanger sequencing confirmed that PMF-derived iPSC carried different allele burdens of JAK2(V617F) gene mutation.

Conclusions: The interation-free iPSC from primary myelofibrosis patient in vitro has been established. This PMF-derived iPSC line provides a valuable tool for studying the pathogenesis, screening of chimical drugs and realizing the standard therapy of PMF.