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 PTEN Hamartoma Tumor Syndrome (PHTS) Collection
| Lot Number | Culture Platform | Lot Description | Banked By | Passage Number | Protocol | Product Information & Testing |
| DB68706 | StemFlex/Matrigel | Provider | 19 | WiCell Feeder Independent Pluripotent Stem Cell Protocol |