| Institution | Boston University |
| Passage Number | 34 |
| Starting Materials | PBMCs |
| Culture Platform | mTeSR adapted |
| IPSC Reprogramming Method | EF1a-hSTEMCCA4 loxp lentiviral infection |
| File Name | Document Type |
|---|---|
| PiZZ1-1-CR4 IF.pdf | Immunofluorescence Staining |
| PiZZ1-1-Cr4 KT.pdf | Karyotype |
| PiZZ1 STR analysis.pdf | STR Analysis |
| Designation | Alias | Description | Reporter | Reporter Type | Reporter Technique | Knockout | Gene Correction | Other Text |
|---|---|---|---|---|---|---|---|---|
| PiZZ1 MM | PiZZ1-1-Cr4-MM1 | bi-allelic CRISPR correction of Z mutation | No | No | Yes - Homozygous | CRISPR-Cas9 editing with DNA oligo repair template | ||
| PiZZ1 MZ | PiZZ1-1-Cr4-MZ3-7 | mono-allelic CRISPR correction of Z mutation | No | No | Yes - Heterozygous | CRISPR-Cas9 editing with DNA oligo repair template | ||
| PiZZ1-MAN1B1del | mutation of promoter region for MAN1B1 gene | No | Yes | No | Mutation of MAN1B1 promoter region results in decreased MAN1B1 expression |
| Variant Gene | Variant Description |
|---|---|
| SERPINA1 | Glu342Lys |
| Link Description | URL |
|---|---|
| Reference | Kotton/Wilson Labs |