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; 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: 19-12-24; Version: 13
CH   CVCL_RX87 ! FUi001-A-1
//
RX   PubMed=29453127; DOI=10.1016/j.scr.2018.01.036;
RA   Tanaka, Yasuyoshi
RA   Sone, Takefumi
RA   Higurashi, Norimichi
RA   Sakuma, Tetsushi
RA   Suzuki, Sadafumi
RA   Ishikawa, Mitsuru
RA   Yamamoto, Takashi
RA   Mitsui, Jun
RA   Tsuji, Hitomi
RA   Okano, Hideyuki
RA   Hirose, Shinichi
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).
//
RX   PubMed=23639079; DOI=10.1186/1756-6606-6-19; PMCID=PMC3655893;
RA   Higurashi, Norimichi
RA   Uchida, Taku
RA   Lossin, Christoph
RA   Misumi, Yoshio
RA   Okada, Yohei
RA   Akamatsu, Wado
RA   Imaizumi, Yoichi
RA   Zhang, Bo
RA   Nabeshima, Kazuki
RA   Mori, Masayuki X.
RA   Katsurabayashi, Shutaro
RA   Shirasaka, Yukiyoshi
RA   Okano, Hideyuki
RA   Hirose, Shinichi
RT   "A human Dravet syndrome model from patient induced pluripotent stem
RT   cells.";
RL   Mol. Brain 6:19.1-19.12(2013).
//