PLX147783

GSE157390: EHMT1 gene truncation in HEK293 cells recapitulates Kleefstra Syndrome disease phenotype

  • Organsim human
  • Type RNASEQ
  • Target gene
  • Project ARCHS4

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. SOURCE: Denise Anderson (Denise.Anderson@telethonkids.org.au) - Computational Biology Telethon Kids Institute

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