• Unit of Measure (UOM) vial
  • Cell Type Human iPS
  • Sex Female
  • Age at Collection 3 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 (GM27159)
  • Genetic Alteration Mutation Information DNA PCR dideoxyterminator sequencing performed on DNA obtained from a buccal specimen found a pathogenic de novo heterozygous, missense variant (c.607C>T, p.Arg203Trp) in exon 4 of the PACS1 gene (NM_018026.3); genomic variant is Chr11: 65978677C>T (GRCh37/hg19).
  • Disease PACS1 (Schuurs-Hoeijmakers) syndrome
  • Ethnicity Caucasian > European Asian > Indian
  • Genetic Alteration Mutation PACS1
  • Genetically related cell lines Yes
  • Provider PACS1 Foundation
  • Collections
Please log-in to add to your cart.

Lot Number Culture Platform Lot Description Banked By Passage Number Protocol Product Information & Testing
DB67290 Stem Cell Culture Medium (KOSR/MEF) Provider 17 WiCell Feeder Based (MEF) Pluripotent Stem Cell Protocol PDF

WiCell