ID   USTCi001-A
AC   CVCL_ZE23
SY   Epi-hiPSC
DR   hPSCreg; USTCi001-A
DR   SKIP; SKIP005741
DR   Wikidata; Q98134372
RX   PubMed=32335389;
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; p.Gln1923Arg (c.5768A>G); Zygosity=Heterozygous (PubMed=32335389).
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   10Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32335389; DOI=10.1016/j.scr.2020.101785;
RA   Zhao H.-F., Li S.-H., He L., Han X.-B., Huang H.-L., Tang F.,
RA   Lin Z.-X., Deng S.-H., Tian C., Huang R.-Q., Li Z.-Y.;
RT   "Generation of iPSC line (USTCi001-A) from human skin fibroblasts of a
RT   patient with epilepsy.";
RL   Stem Cell Res. 45:101785-101785(2020).
//