Article ; Online: Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation.
2024 Volume 76, Page(s) 103344
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 ... ...
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. |
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MeSH term(s) | Humans ; Induced Pluripotent Stem Cells/metabolism ; Mutation/genetics ; Gene Editing ; Mutation, Missense ; Cell Differentiation ; CRISPR-Cas Systems/genetics ; CELF Proteins/genetics ; CELF Proteins/metabolism ; Nerve Tissue Proteins/metabolism |
Chemical Substances | CELF2 protein, human ; CELF Proteins ; Nerve Tissue Proteins |
Language | English |
Publishing date | 2024-02-12 |
Publishing country | England |
Document type | Journal Article |
ZDB-ID | 2393143-7 |
ISSN | 1876-7753 ; 1873-5061 |
ISSN (online) | 1876-7753 |
ISSN | 1873-5061 |
DOI | 10.1016/j.scr.2024.103344 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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