PACS2 Sydrome disease model iPSC line. This male iPSC line has a PACS2 Glu209Lys (PACS2 E209K) mutation.
- Unit of Measure (UOM) vial
- Cell Type Human iPS
- Sex Male
- Age at Collection 9 years
- Reprogramming Method Non-integrating (Sendai: Oct4, Klf4, Sox2, cMyc)
- Tissue Origin Peripheral Blood Mononuclear Cells
- Genetic Alteration Mutation Information Whole exome sequencing revealed a de novo autosomal dominant heterozygous pathogenic variant in the PACS2 gene: p.Glu209Lys/p.E209K (c.625G>A)
- Disease PACS2 Sydrome
- Ethnicity Caucasian
- Genetic Alteration Mutation PACS2
- hPSCReg ID PACSIIi002-A
- Provider PACS2 Research Foundation
- Collections Uncategorized
| Lot Number | Culture Platform | Lot Description | Banked By | Passage Number | Protocol | Product Information & Testing |
| DB68805 | mTeSR Plus/Matrigel | Provider | 7 | WiCell Feeder Independent Pluripotent Stem Cell Protocol |