This cell line is a patient-derived PTEN Hamartoma Tumor Syndrome (PHTS) line; a clone with variant not corrected during CRISPR process. A CRISPR-corrected isogenic control iPSC line, BCHi017-A-9, and a homozygous patient variant, BCHi017-A-11, are available from WiCell.

  • Cell Line Alias HNDS0164-01#D CNC40(+/-)
  • Unit of Measure (UOM) vial
  • Cell Type Human iPS
  • Sex Male
  • Age at Collection 11 years
  • Ethnicity Information England. Physician reported
  • Reprogramming Method Non-Integrating (Sendai: Oct4, Klf4, Sox2, cMyc)
  • Tissue Origin Skin Fibroblast
  • Genetic Alteration Mutation Information c.517C>T; p.R173C
  • Genetic Modification Keyword Isogenic - PTEN Hamartoma Tumor Syndrome (PHTS)
  • Disease PTEN Hamartoma Tumor Syndrome (PHTS)
  • Genetic Alteration Mutation PHTS (heterozygous)
  • hPSCReg ID BCHi017-A-7
  • Provider Boston Children's Hospital - Dr. Elizabeth Buttermore
  • Collections
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