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 PTEN Hamartoma Tumor Syndrome (PHTS) Collection
| Lot Number | Culture Platform | Lot Description | Banked By | Passage Number | Protocol | Product Information & Testing |
| DB68709 | StemFlex/Matrigel | 11 | WiCell Feeder Independent Pluripotent Stem Cell Protocol |