Reprogramming of Hypophosphatasia patient cells to generate a new human iPSC cell line (UOMi009-A)

[摘要] In this study we report reprogramming and generation of a new human induced pluripotent stem cell line UOMi009_A, which was generated from a 64 year old male patient with childhood onset Hypophosphatasia (HPP). The patient has compound heterozygous mutations in the ALPL gene (c.571G>A (p.Glu191Lys) and c.1001G>A (p.Gly334Asp)) which were confirmed in the UOMi009_A line. This line was well characterized and will help in our future assessment of HPP disease pathophysiology and drug screening.

[学科分类] 生理学