• Unit of Measure (UOM) vial
  • Cell Type Human iPS
  • Sex Female
  • Age at Collection 10 Months
  • Reprogramming Method Non-Integrating - Episomal Plasmid > Non-Integrating (Episomal Plasmid: Oct4, Klf4, Sox2, L-Myc, shp53, Lin28)
  • Tissue Origin Blood / PBMC > Blood
  • 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)
  • Diagnosis Information Diagnosis of PACS2 was self reported.
  • Disease PACS2 Syndrome
  • Ethnicity Caucasian
  • Genetic Alteration Mutation PACS2
  • hPSCReg ID PACSIIi001-A
  • Provider PACS2 Research Foundation
  • Collections
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