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


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. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Srivastava A, Siwach I, Rockman-Greenberg C, Dhingra S
Journal Stem cell research
Publication Date 2022 Sep 17;64:102921
PubMed 36152425
DOI 10.1016/j.scr.2022.102921

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