Establishment of a new human iPSC cell line (UOMi007-A) from a patient with Hypophosphatasia

[摘要] Hypophosphatasia (HPP) is a rare, inherited, metabolic, genetic disorder, which arises due to loss of function mutation in the alkaline phosphatase ( ALPL ) gene. We have created a new induced pluripotent stem cell line (UOMi007-A) from peripheral blood mononuclear cells (PBMCs) of an 18 yr. old male patient having compound heterozygous mutations in the ALPL gene c.571G>A (p.Glu191Lys) and c.1001G>A (p.Gly334Asp) respectively. This line can be used for exploration into the molecular mechanisms of disease pathophysiology, screen new potential drugs and design cell therapy studies that can be personalized or used for future patients.

[学科分类] 生理学