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Generation of new human iPSC cell line (UOMi008-A) from a Hypophosphatasia patient.

Stem cell research - 1 Oct 2022

Srivastava Abhay, Verma Elika, Rockman-Greenberg Cheryl, Dhingra Sanjiv

Abstract excerpt

A new induced pluripotent stem cell (iPSC) line namely UOMi008-A was generated from a patient having a childhood onset of Hypophosphatasia (HPP). This patient has compound heterozygous mutations c.571G > A (p.Glu191Lys) and c.1001G > A (p.Gly334Asp) in the ALPL gene respectively. This iPSC line will be used for in vitro disease modeling, which will aid in delineating the underlying molecular mechanism involved in...

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PMID: 35964540
DOI: 10.1016/j.scr.2022.102891

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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