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Cellosaurus FUi001-A (CVCL_T891)

[Text version]
Cell line name FUi001-A
Synonyms D1-6
Accession CVCL_T891
Resource Identification Initiative To cite this cell line use: FUi001-A (RRID:CVCL_T891)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 10585; SCN1A; Simple; p.Arg1645Ter (c.4933C>T); ClinVar=VCV000189921; Zygosity=Heterozygous (PubMed=23639079).
Disease Developmental and epileptic encephalopathy 6A (NCIt: C147071)
Dravet syndrome (ORDO: Orphanet_33069)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_T890 ! FUi001-B
Sex of cell Female
Age at sampling 29Y
Category Induced pluripotent stem cell
Publications

PubMed=23639079; DOI=10.1186/1756-6606-6-19
Higurashi N., Uchida T., Lossin C., Misumi Y., Okada Y., Akamatsu W., Imaizumi Y., Zhang B., Nabeshima K., Mori M.X., Katsurabayashi S., Shirasaka Y., Okano H., Hirose S.
A human Dravet syndrome model from patient induced pluripotent stem cells.
Mol. Brain 6:19.1-19.12(2013)

Cross-references
Cell line databases/resources SKIP; SKIP000234 - Discontinued
SKIP; SKIP003130
Encyclopedic resources Wikidata; Q54817158
Entry history
Entry creation03-Feb-2014
Last entry update05-Oct-2023
Version number15