EIF3F-related neurodevelopmental disorder model human iPSC line. Reprogrammed from PBMC collected at 6 years, 6 months with an autosomal recessive homozygous pathogenic variant in the EIF3F gene: c.694T>G/p.(Phe232Val). A helpful line in research on the EIF3F gene mutation and its impact on intellectual developmental disorder. Autosomal, recessive 67.

  • Unit of Measure (UOM) vial
  • Cell Type Human iPS
  • Sex Female
  • Age at Collection 6 years
  • Reprogramming Method Non-integrating (Sendai: Oct4, Klf4, Sox2, cMyc)
  • Tissue Origin Peripheral Blood Mononuclear Cells
  • Genetic Alteration Mutation Information Whole exome sequencing revealed an autosomal recessive homozygous pathogenic variant in the EIF3F gene: c.694T>G/p.(Phe232Val)
  • Disease EIF3F-associated Neurodevelopmental Disorder
  • Ethnicity Caucasian > European
  • Genetic Alteration Mutation EIF3F
  • hPSCReg ID EIFIIIi001-A
  • Provider EIF3F Research Foundation
  • Collections
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