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Cellosaurus FUi002-A (CVCL_VM11)

[Text version]

Cell line name FUi002-A
Synonyms D6-5; D6#5
Accession CVCL_VM11
Resource Identification Initiative To cite this cell line use: FUi002-A (RRID:CVCL_VM11)
Comments From: Central Research Institute for the Pathomechanisms of Epilepsy, Fukuoka University; Fukuoka; Japan.
Population: Japanese.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 10585; SCN1A; Simple; p.Arg1525Ter (c.4573C>T); ClinVar=VCV000189911; Zygosity=Heterozygous (PubMed=29981888).
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 Male
Age at sampling 26Y
Category Induced pluripotent stem cell
Publications

PubMed=29981888; DOI=10.1016/j.scr.2018.06.008
Tanaka Y., Higurashi N., Shirasu N., Yasunaga S., Moreira K.M., Okano H., Hirose S.
Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene.
Stem Cell Res. 31:11-15(2018)

Cross-references
Cell line databases/resources hPSCreg; FUi002-A
SKIP; SKIP005529
Encyclopedic resources Wikidata; Q93557469
Entry history
Entry creation07-Sep-2018
Last entry update23-Jun-2022
Version number8