Generation of new human iPSC cell line (UOMi008-A) from a Hypophosphatasia patient
oleh: Abhay Srivastava, Elika Verma, Cheryl Rockman-Greenberg, Sanjiv Dhingra
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2022-10-01 |
Deskripsi
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 disease pathogenesis and provide plausible new therapeutic directions.