ID   FUi001-A-1
AC   CVCL_RX87
SY   D1-1 TALEN
DR   hPSCreg; FUi001-A
DR   Wikidata; Q54835265
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_corrected; p.Arg1645Ter (c.4933C>T); ClinVar=VCV000189921; Zygosity=Heterozygous; Note=By TALEN (PubMed=29453127).
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)
HI   CVCL_T890 ! FUi001-B
SX   Female
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 11
//
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).
//