CRISPR/Cas9-mediated generation of hESC lines with homozygote and heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome.
Stem Cell Res
; 67: 103012, 2023 03.
Article
in En
| MEDLINE
| ID: mdl-36610307
ABSTRACT
C-terminal Binding Protein 1 (CTBP1) is a ubiquitously expressed transcriptional co-repressor and membrane trafficking regulator. A recurrent de novo c.991C>T mutation in CTBP1 leads to expression of p.R331W CTBP1 and causes hypotonia, ataxia, developmental delay, and tooth enamel defects syndrome (HADDTS), a rare early onset neurodevelopmental disorder. We generated hESCs lines with heterozygote and homozygote c.991C>T in CTBP1 using CRISPR/Cas9 genome editing and validated them for genetic integrity, off-target mutations, and pluripotency. They will be useful for investigation of HADDTS pathophysiology and for screening for potential therapeutics.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Human Embryonic Stem Cells
Type of study:
Prognostic_studies
Limits:
Humans
Language:
En
Journal:
Stem Cell Res
Year:
2023
Document type:
Article
Affiliation country:
Germany