Powered by BiozThis cell line is a modified version of WA01 (H1), engineered to contain a G406 mutation. This isogenic cell line serves as a disease model for Timothy Syndrome.
- Unit of Measure (UOM) vial
- Cell Type Modified Human ES
- Sex Male
- Genetic Alteration Mutation Information Point mutation introduced into both alleles of the CACNA1C gene. Mutation of Gly406 to Arg (G406R) was introduced.
- Genetic Modification Keyword Isogenic; Autism
- Disease Timothy Syndrome
- Genetic Alteration Mutation CACNA1C
- Pubmed Abstract Martinez, RA et al. "Genome engineering of isogenic human ES cells to model autism disorders." Nucleic Acids Research 43(10) (2015).
- NIH Approval NIHhESC-10-0043
- Provider Allen Institute - Dr. Boaz Levi
- Collections Allen Institute Stem Cell Collection for Early Human Brain Development
| Lot Number | Culture Platform | Lot Description | Banked By | Passage Number | Protocol | Product Information & Testing |
| DB66692 | mTeSR1/Matrigel | Provider | 59 | WiCell Feeder Independent Pluripotent Stem Cell Protocol |