Cellosaurus cell line D3 [Human Dravet fibroblast] (CVCL

Cellosaurus D3 [Human Dravet fibroblast] (CVCL_A3YR)

Cross-references
Cell line name	D3 [Human Dravet fibroblast]
Accession	CVCL_A3YR
Resource Identification Initiative	To cite this cell line use: D3 [Human Dravet fibroblast] (RRID:CVCL_A3YR)
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.Asp43Metfs49 (c.126delA) (p.Lys42fs50); ClinVar=VCV000496115; 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	24Y
Category	Finite cell line
Publications	PubMed=25732146; DOI=10.2174/1566524015666150303110300; PMCID=PMC4428755 Shin-ichi Kano, Ming Yuan, Ross A. Cardarelli, Gustavo Maegawa, Norimichi Higurashi, Meriem Gaval-Cruz, Ashley M. Wilson, Carlos A. Tristan, Mari A. Kondo, Yian Chen, Minori Koga ...Show all 26 authors... , Cassandra Obie, Koko Ishizuka, Saurav Seshadri, Rupali Srivastava, Takahiro A. Kato, Yasue Horiuchi, Thomas W. Sedlak, Yohan Lee, Judith Livant Rapoport, Shinichi Hirose, Hideyuki Okano, David Lee Valle, Patricio O'Donnell, Akira Sawa, Mihoko Kai; Show fewer authors 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; Q105506736
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	7