PACS2 Sydrome disease model iPSC line. This male iPSC line has a PACS2 Glu209Lys (PACS2 E209K) mutation.

  • Unit of Measure (UOM) vial
  • Cell Type Human iPS
  • Sex Male
  • Age at Collection 9 years
  • Reprogramming Method Non-integrating (Sendai: Oct4, Klf4, Sox2, cMyc)
  • Tissue Origin Peripheral Blood Mononuclear Cells
  • Genetic Alteration Mutation Information Whole exome sequencing revealed a de novo autosomal dominant heterozygous pathogenic variant in the PACS2 gene: p.Glu209Lys/p.E209K (c.625G>A)
  • Disease PACS2 Sydrome
  • Ethnicity Caucasian
  • Genetic Alteration Mutation PACS2
  • hPSCReg ID PACSIIi002-A
  • Provider PACS2 Research Foundation
  • Collections
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