Generation of a new human iPSC cell line (UOMi010-A) from a patient with hypophosphatasia

Abstract

Hypophosphatasia (HPP) is characterized by loss of function variants in the alkaline phosphatase (ALPL) gene that leads to impaired mineralization in bones and teeth. It is a rare inherited metabolic disorder which has prenatal, perinatal, juvenile, and adult-onset clinical presentations. In order to delineate molecular mechanisms underlying HPP and to screen new potential effective drug therapies, we have generated a patient specific iPSC cell line (UOMi010-A) from the patient’s peripheral blood mononuclear cells (PBMCs). The patient is 62 yr. old female with a heterozygous pathogenic variant in the ALPL gene at c.551G > A (p.Arg184Gln).