Ontology highlight
ABSTRACT:
SUBMITTER: Gao F
PROVIDER: S-EPMC7291823 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Gao Fangjian F Elliott Nicholas J NJ Ho Josephine J Sharp Alexzander A Shokhirev Maxim N MN Hargreaves Diana C DC
Molecular cell 20190730 5
Mammalian SWI/SNF complexes are multi-subunit chromatin remodeling complexes associated with an ATPase (either SMARCA4 or SMARCA2). Heterozygous mutations in the SMARCA2 ATPase cause Nicolaides-Baraitser syndrome (NCBRS), an intellectual disability syndrome associated with delayed speech onset. We engineered human embryonic stem cells (hESCs) to carry NCBRS-associated heterozygous SMARCA2 K755R or R1159Q mutations. While SMARCA2 mutant hESCs were phenotypically normal, differentiation to neural ...[more]