ID   FUi001-B
AC   CVCL_T890
AS   CVCL_RX88
SY   D1-1
DR   hPSCreg; FUi001-B
DR   SKIP; SKIP000233
DR   Wikidata; Q54835266
RX   PubMed=23639079;
RX   PubMed=29453127;
CC   From: Central Research Institute for the Pathomechanisms of Epilepsy, Fukuoka University; Fukuoka; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 10585; SCN1A; Simple; p.Arg1645Ter (c.4933C>T); ClinVar=VCV000189921; Zygosity=Heterozygous (PubMed=29453127).
CC   Discontinued: SKIP; SKIP000233; probable.
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)
OI   CVCL_T891 ! FUi001-A
SX   Female
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 29-06-23; Version: 12
//
RX   PubMed=23639079; DOI=10.1186/1756-6606-6-19;
RA   Higurashi N., Uchida T., Lossin C., Misumi Y., Okada Y., Akamatsu W.,
RA   Imaizumi Y., Zhang B., Nabeshima K., Mori M.X., Katsurabayashi S.,
RA   Shirasaka Y., Okano H., Hirose S.;
RT   "A human Dravet syndrome model from patient induced pluripotent stem
RT   cells.";
RL   Mol. Brain 6:19.1-19.12(2013).
//
RX   PubMed=29453127; DOI=10.1016/j.scr.2018.01.036;
RA   Tanaka Y., Sone T., Higurashi N., Sakuma T., Suzuki S., Ishikawa M.,
RA   Yamamoto T., Mitsui J., Tsuji H., Okano H., Hirose S.;
RT   "Generation of D1-1 TALEN isogenic control cell line from Dravet
RT   syndrome patient iPSCs using TALEN-mediated editing of the SCN1A
RT   gene.";
RL   Stem Cell Res. 28:100-104(2018).
//