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


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. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Srivastava A, Jaryal R, Rockman-Greenberg C, Dhingra S
Journal Stem cell research
Publication Date 2022 Jun 8;63:102839
PubMed 35700635
DOI 10.1016/j.scr.2022.102839

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