Cellosaurus cell line FUi003-A1 (CVCL

Cross-references
Cell line name	FUi003-A1
Synonyms	D7-1
Accession	CVCL_ZW11
Resource Identification Initiative	To cite this cell line use: FUi003-A1 (RRID:CVCL_ZW11)
Comments	From: Central Research Institute for the Pathomechanisms of Epilepsy, Fukuoka University; Fukuoka; Japan. 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.Tyr1102Ter (c.3306C>A); ClinVar=VCV000217243; Zygosity=Heterozygous (PubMed=32599563).
Disease	Developmental and epileptic encephalopathy 6A (NCIt: C147071) Dravet syndrome (ORDO: Orphanet_33069)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_A3YQ (D2 [Human Dravet fibroblast])
Sex of cell	Female
Age at sampling	2Y
Category	Induced pluripotent stem cell
Publications	PubMed=32599563; DOI=10.1016/j.scr.2020.101857 Kimura Y., Tanaka Y., Shirasu N., Yasunaga S.-i., Higurashi N., Hirose S. Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndrome. Stem Cell Res. 47:101857-101857(2020)
Cell line databases/resources	SKIP; SKIP005773
Encyclopedic resources	Wikidata; Q102113863
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	8