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, BCHi014-A-9, and a heterozygous patient variant, BCHi014-A-10, are available from WiCell.
- Cell Line Alias HNDS0141-01#B CC18(-/-)
- Unit of Measure (UOM) vial
- Cell Type Modified Human iPS
- Sex Male
- Age at Collection 16 years
- Reprogramming Method Non-Integrating (Sendai: Oct4, Klf4, Sox2, cMyc)
- Tissue Origin Peripheral Blood Mononuclear Cell
- Genetic Alteration Mutation Information c.115G>A; p.A39T
- Genetic Modification Keyword Isogenic - PTEN Hamartoma Tumor Syndrome (PHTS)
- Disease PTEN Hamartoma Tumor Syndrome (PHTS)
- Genetic Alteration Mutation PHTS (homozygous)
- hPSCReg ID BCHi014-A-12
- 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 |
| DB68703 | StemFlex/Matrigel | Provider | 12 | WiCell Feeder Independent Pluripotent Stem Cell Protocol |