Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation
Summary
The identification of neurodevelopmental defects in a patient harboring a heterozygous de novo missense variant (NM_006561.4, c.1517G > A, p.Arg506His) within the CELF2 gene. Here, we describe the establishment of a patient-derived induced pluripotent stem cell (iPSC) line, alongside an isogenic gene-corrected iPSC line, achieved through CRISPR/Cas9 genome editing. These lines exhibit the expression of pluripotency markers, demonstrate differentiation potential into all three germ layers, and maintain a normal karyotype. These iPSC lines serve as valuable tools for investigating the consequences of CELF2 related neurodevelopmental disorders. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Hua M, Williams L, Burns K, Liu S, Ellis J, Innes AM, McPherson M, Yang G |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Apr;76:103344 |
| PubMed | 38364506 |
| DOI | 10.1016/j.scr.2024.103344 |