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Cellosaurus UUIGPi006-A (CVCL_WT83)

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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.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:10585; SCN1A; Simple; p.Pro1837fs (c.5502_5509dupGCTTGAAC); 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 17Y
Category Induced pluripotent stem cell
Publications

PubMed=31400703; DOI=10.1016/j.scr.2019.101523
Jens Schuster, Ambrin Fatima, Maria Sobol, Feria Hikmet Norradin, Loora Laan, Niklas Dahl;
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; UUIGPi006-A
Encyclopedic resources Wikidata; Q98134417
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number13