Establishing a human-induced pluripotent stem cell line SMUSHi005-A from a patient with hypophosphatemic vitamin D-resistant rickets carrying the PHEX c.1586-1586+1 delAG mutation
Summary
Hypophosphatemic vitamin D-resistant rickets typically presents in infancy or early childhood with skeletal deformities and growth plate abnormalities. In this report, the SMUSHi005-A human induced pluripotent stem cell (hiPSC) line was successfully established from the PBMCs of a female patient carrying the PHEX mutation with c.1586-1586+1 delAG. The iPSC line has been confirmed to have a normal karyotype. The displayed cells clearly exhibit characteristics similar to embryonic stem cells, expressing pluripotency markers and demonstrating the ability to differentiate into three germ layers. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Li X, Ma Y, Huang C, Yang J, Guo M, Xu X, Guo X |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Jun;77:103439 |
| PubMed | 38761687 |
| DOI | 10.1016/j.scr.2024.103439 |