Cellosaurus cell line FUi001-A (CVCL

Cross-references
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; 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; PMCID=PMC3655893 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)
Cell line databases/resources	SKIP; SKIP000234 - Discontinued SKIP; SKIP003130
Encyclopedic resources	Wikidata; Q54817158
Entry history
Entry creation	03-Feb-2014
Last entry update	19-Dec-2024
Version number	16