Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation.
Stem Cell Res
; 76: 103344, 2024 Apr.
Article
in En
| MEDLINE
| ID: mdl-38364506
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Induced Pluripotent Stem Cells
Limits:
Humans
Language:
En
Journal:
Stem Cell Res
Year:
2024
Document type:
Article
Country of publication: