Cellosaurus cell line D1 [Human Dravet fibroblast] (CVCL

Cross-references
Cell line name	D1 [Human Dravet fibroblast]
Accession	CVCL_A3YP
Resource Identification Initiative	To cite this cell line use: D1 [Human Dravet fibroblast] (RRID:CVCL_A3YP)
Comments	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.Arg862Ter (c.2584C>T); ClinVar=VCV000189857; Zygosity=Heterozygous (PubMed=25732146).
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	15Y
Category	Finite cell line
Publications	PubMed=25732146; DOI=10.2174/1566524015666150303110300; PMCID=PMC4428755 Kano S.-i., Yuan M., Cardarelli R.A., Maegawa G., Higurashi N., Gaval-Cruz M., Wilson A.M., Tristan C.A., Kondo M.A., Chen Y., Koga M., Obie C., Ishizuka K., Seshadri S., Srivastava R., Kato T.A., Horiuchi Y., Sedlak T.W., Lee Y., Rapoport J.L., Hirose S., Okano H., Valle D.L., O'Donnell P., Sawa A., Kai M. Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy. Curr. Mol. Med. 15:138-145(2015)
Encyclopedic resources	Wikidata; Q105506732
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	7