ID   D1 [Human Dravet fibroblast]
AC   CVCL_A3YP
DR   Wikidata; Q105506732
RX   PubMed=25732146;
CC   Sequence variation: Mutation; HGNC; HGNC:10585; SCN1A; Simple; p.Arg862Ter (c.2584C>T); ClinVar=VCV000189857; Zygosity=Heterozygous (PubMed=25732146).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C147071; Developmental and epileptic encephalopathy 6A
DI   ORDO; Orphanet_33069; Dravet syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   15Y
CA   Finite cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
//
RX   PubMed=25732146; DOI=10.2174/1566524015666150303110300; PMCID=PMC4428755;
RA   Kano S.-i., Yuan M., Cardarelli R.A., Maegawa G., Higurashi N.,
RA   Gaval-Cruz M., Wilson A.M., Tristan C.A., Kondo M.A., Chen Y., Koga M.,
RA   Obie C., Ishizuka K., Seshadri S., Srivastava R., Kato T.A.,
RA   Horiuchi Y., Sedlak T.W., Lee Y., Rapoport J.L., Hirose S., Okano H.,
RA   Valle D.L., O'Donnell P., Sawa A., Kai M.;
RT   "Clinical utility of neuronal cells directly converted from
RT   fibroblasts of patients for neuropsychiatric disorders: studies of
RT   lysosomal storage diseases and channelopathy.";
RL   Curr. Mol. Med. 15:138-145(2015).
//