Reprogramming of peripheral blood mononuclear cells from a patient with hypophosphatasia to generate iPSC line (UOMi011-A)
Summary
Hypophosphatasia (HPP) is a rare inherited metabolic disorder predominantly affecting bones and teeth. HPP can manifest throughout the life cycle from in utero, to perinatal and infantile (before 6 months of age) presentations, to onset in childhood through adulthood. We report a new cell line (UOMi011-A) generated from a 7 yr. old female with perinatal HPP. The patient exhibits homozygous c.1001G > A (p.Gly334Asp) mutation in the ALPL gene. This cell line will be used for studying the molecular, cellular and developmental mechanisms in context to the mutation and disorder. It will also be used to screen potential therapeutic avenues. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Srivastava A, Sareen N, Rockman-Greenberg C, Dhingra S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Jul 11;87:103774 |
| PubMed | 40652797 |
| DOI | 10.1016/j.scr.2025.103774 |