ID   USTCi001-A-1
AC   CVCL_ZU60
DR   hPSCreg; USTCi001-A-1
DR   SKIP; SKIP005779
DR   Wikidata; Q98134374
RX   PubMed=32544858;
CC   From: School of Life Sciences, University of Science and Technology of China; Hefei; China.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; 10585; SCN1A; Simple_corrected; p.Gln1923Arg (c.5768A>G); Zygosity=Heterozygous; Note=By TALEN (PubMed=32544858).
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_ZE23 ! USTCi001-A
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32544858; DOI=10.1016/j.scr.2020.101864;
RA   Zhao H.-F., He L., Li S., Huang H.-L., Tang F., Han X.-B., Lin Z.-X.,
RA   Tian C., Huang R.-Q., Zhou P., Huang J.-F., Deng S.-H., Li Z.-Y.;
RT   "Generation of corrected-hiPSC (USTCi001-A-1) from epilepsy patient
RT   iPSCs using TALEN-mediated editing of the SCN1A gene.";
RL   Stem Cell Res. 46:101864-101864(2020).
//