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Cellosaurus UUIGPi007-A (CVCL_WT84)

[Text version]

Cell line name UUIGPi007-A
Synonyms UUIGPi007A; DD4A; DRS4A
Accession CVCL_WT84
Resource Identification Initiative To cite this cell line use: UUIGPi007-A (RRID:CVCL_WT84)
Comments From: Department of Immunology, Genetics and Pathology, Uppsala University; Uppsala; Sweden.
Sequence variations Heterozygous for SCN1A p.Ala989Phe (c.2965G>C) (PubMed=31400703).
Disease Dravet syndrome (NCIt: C116573)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

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)

Cross-references
Cell line databases/resources hPSCreg; UUIGPi007-A
Entry history
Entry creation05-Jul-2019
Last entry updated06-Sep-2019
Version number2