Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22)
Summary
Hypomyelinating Leukodystrophy 22 (HLD22) is caused by a stoploss mutation in CLDN11. To study the molecular mechanisms underlying HLD22, human induced pluripotent stem cells (hiPSCs) were generated from patient fibroblasts carrying the stop-loss mutation in CLDN11. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Ozgoren OK, Sequiera GL, Ferrari Bardile C, Gjervan SC, Salman A, Lehman A, Turvey SE, Ross CJD, Stockler S, Pouladi MA |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Sep;71:103174 |
| PubMed | 37531724 |
| DOI | 10.1016/j.scr.2023.103174 |