EHMT1 gene truncation in HEK293 cells recapitulates Kleefstra Syndrome disease phenotype

ABSTRACT: Haploinsufficiency of the Euchromatin histone methyltransferase 1 (EHMT1) gene leads to Kleefstra Syndrome, a rare disease characterised by moderate to severe developmental delay/intellectual disability, childhood hypotonia and distinct facial features, comprising microcephaly. This study examines the genetic variant EHMT1_Ter (p.[Tyr1148=];[Tyr1148Leufs*9]) in HEK293 cells.

ORGANISM(S): Homo sapiens

PROVIDER: GSE157390 | GEO | 2020/09/04

REPOSITORIES: GEO