This cell line is a modified version of MIN04i-33109.2B, engineered to correct a TAF1 gene variant. Mutations in TAF1 are known to cause X-linked Dystonia-Parkinsonism (XDP). In this cell line the disease-specific SVA in intron 32 of TAF1 gene has been excised by CRISPR/cas9-based genome editing. An unmodified, affected, isogenic cell line, MIN04i-33109.2B, is available from WiCell.
- Cell Line Alias 33109-2B
- Unit of Measure (UOM) vial
- Cell Type Modified Human iPS
- Sex Male
- Age at Collection 72 Years
- Reprogramming Method Non-integrating (Sendai: Oct4, Klf4, Sox2, cMyc)
- Tissue Origin Skin Fibroblast
- Genetic Modification Keyword Isogenic; X-linked Dystonia Parkinsonism
- Disease None reported
- Ethnicity Asian > Filipino
- Genetic Alteration Mutation TAF1 Variant Corrected
- Pubmed Abstract Aneichyk, T et al. ''Dissecting the Casual Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.'' Cell 172.5 (2018): 897-909.
- Genetically related cell lines Yes
- hPSCReg ID XDPi003-A-1
- Provider Massachusetts General Hospital
- Collections X-linked Dystonia Parkinsonism
Lot Number | Culture Platform | Lot Description | Banked By | Passage Number | Protocol | Product Info URL |
WB67622 | mTeSR Plus/Matrigel | WiCell | 42 | WiCell Feeder Independent Pluripotent Stem Cell Protocol |