This cell line is a modified version of GFAP-R416W, engineered to remove a mutation in the astrocyte intermediate filament glial fibrillary acidic protein (GFAP). Mutations in GFAP are known to cause Alexander disease. An unmodified, affected, isogenic cell line, GFAP-R416W, is available from WiCell.
- Cell Line Alias R416
- Unit of Measure (UOM) vial
- Cell Type Modified Human iPS
- Sex Male
- Age at Collection 8 Years
- Tissue Origin Fibroblasts
- Genetic Alteration Mutation Information Mutated allele corrected using CRISPR/Cas9
- Diagnosis Information Diagnosis of Alexander disease was physician reported.
- Genetic Modification Keyword Isogenic; Alexander disease (Type II)
- Disease None reported
- Genetic Alteration Mutation GFAP Corrected
- Pubmed Abstract Jones, Jeffrey R et al. "Mutations in GFAP Disrupt the Distribution and Function of Organelles in Human Astrocytes" Cell Reports 25.4 (2018): 947-958.
- hPSCReg ID WISCi016-A-1
- Provider University of Wisconsin - Dr. Su-Chun Zhang
- Collections Alexander disease Collection
Lot Number | Culture Platform | Lot Description | Banked By | Passage Number | Protocol | Product Info URL |
WB67485 | mTeSR1/Matrigel | WiCell | 22 | WiCell Feeder Independent Pluripotent Stem Cell Protocol |