This cell line contains a homozygous expression of patient variant; derived via CRISPR editing to provide gene dose allelic series. CRISPR-corrected isogenic control iPSC line, BCHi015-A-3, and a heterozygous patient variant, BCHi015-A-2, are available from WiCell.

  • Cell Line Alias HNDS0138-01#B CC6(-/-)
  • Unit of Measure (UOM) vial
  • Cell Type Modified Human iPS
  • Sex Female
  • Age at Collection 13 years
  • Ethnicity Information Italy. Physician reported
  • Reprogramming Method Non-Integrating (Sendai: Oct4, Klf4, Sox2, cMyc
  • Tissue Origin Peripheral Blood Mononuclear Cell
  • Genetic Alteration Mutation Information c.611delC; p.Pro204GlnfsX17
  • Genetic Modification Keyword Isogenic - PTEN Hamartoma Tumor Syndrome (PHTS)
  • Disease PTEN Hamartoma Tumor Syndrome (PHTS)
  • Genetic Alteration Mutation PHTS (homozygous)
  • hPSCReg ID BCHi015-A-5
  • Provider Boston Children's Hospital - Dr. Elizabeth Buttermore
  • Collections
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