• Unit of Measure (UOM) vial
  • Cell Type Human iPS
  • Sex Male
  • Age at Collection 6 Years
  • Ethnicity Information Self-reported; Country of Origin: United States of America
  • Reprogramming Method Non-integrating (Sendai: Oct4, Klf4, Sox2, cMyc)
  • Tissue Origin Skin Fibroblast Buttock (GM27161)
  • Genetic Alteration Mutation Information Genomic whole exome sequencing revealed a de novo autosomal dominant heterozygous pathogenic variant in exon 4 of the PACS1 gene: p.R203W (c.607C>T).
  • Disease PACS1 (Schuurs-Hoeijmakers) syndrome
  • Ethnicity Caucasian > European
  • Genetic Alteration Mutation PACS1
  • Provider PACS1 Foundation
  • Collections
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