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Cellosaurus UUIGPi006-A (CVCL_WT83)

[Text version]

Cell line name UUIGPi006-A
Synonyms UUIGPi006A; DD1C; DRS1C
Accession CVCL_WT83
Resource Identification Initiative To cite this cell line use: UUIGPi006-A (RRID:CVCL_WT83)
Comments From: Department of Immunology, Genetics and Pathology, Uppsala University; Uppsala; Sweden.
Sequence variations Heterozygous for SCN1A p.Phe1837fs (c.5502-5509dupGCTTGAAC) (PubMed=31400703).
Disease Dravet syndrome (NCIt: C116573)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 17Y
Category Induced pluripotent stem cell

PubMed=31400703; DOI=10.1016/j.scr.2019.101523
Schuster J., Fatima A., Sobol M., Norradin F.H., Laan L., Dahl N.
Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations.
Stem Cell Res. 39:101523-101523(2019)

Cell line databases/resources hPSCreg; UUIGPi006-A
Entry history
Entry creation05-Jul-2019
Last entry updated06-Sep-2019
Version number2