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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.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 10585; SCN1A; Simple; p.Ala989Phe (c.2965G>C); Zygosity=Heterozygous (PubMed=31400703).
Disease Developmental and epileptic encephalopathy 6A (NCIt: C147071)
Dravet syndrome (ORDO: Orphanet_33069)
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
Encyclopedic resources Wikidata; Q98134419
Entry history
Entry creation05-Jul-2019
Last entry update29-Jun-2023
Version number11