ID   USTCi001-A-2
AC   CVCL_A1QQ
SY   Epi-tdTomato-hiPSC
DR   hPSCreg; USTCi001-A-2
DR   Wikidata; Q102115089
RX   PubMed=32977294;
CC   From: School of Life Sciences, University of Science and Technology of China; Hefei; China.
CC   Population: Asian.
CC   Characteristics: Using CRISPR/Cas9 a tdTomato gene was introduced into the first exon of the GAD67 gene (PubMed=32977294).
CC   Sequence variation: Mutation; HGNC; 10585; SCN1A; Simple; p.Gln1923Arg (c.5768A>G); Zygosity=Heterozygous (from parent cell line).
CC   Transfected with: tdTomato, a bright red fluorescent protein derived from drFP583 (DsRed).
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: 29-10-20; Last updated: 05-10-23; Version: 8
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RX   PubMed=32977294; DOI=10.1016/j.scr.2020.102003;
RA   Zhao H.-F., He L., Huang H.-L., Li S., Cheng N., Tang F., Han X.-B.,
RA   Lin Z.-X., Huang R.-Q., Zhou P., Deng S.-H., Huang J.-F., Li Z.-Y.;
RT   "Generation of a tdTomato-GAD67 reporter human epilepsia mutation
RT   induced pluripotent stem cell line, USTCi001-A-2, using CRISPR/Cas9
RT   editing.";
RL   Stem Cell Res. 48:102003-102003(2020).
//