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Cellosaurus USTCi001-A-2 (CVCL_A1QQ)

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Cell line name USTCi001-A-2
Synonyms Epi-tdTomato-hiPSC
Accession CVCL_A1QQ
Resource Identification Initiative To cite this cell line use: USTCi001-A-2 (RRID:CVCL_A1QQ)
Comments From: School of Life Sciences, University of Science and Technology of China; Hefei; China.
Population: Asian.
Characteristics: Using CRISPR/Cas9 a tdTomato gene was introduced into the first exon of the GAD67 gene (PubMed=32977294).
Genetic integration: Method=CRISPR/Cas9; Gene=FPbase; PGG5S; tdTomato (Note=Bright red fluorescent protein derived from drFP583 (DsRed)).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10585; SCN1A; Simple; p.Gln1923Arg (c.5768A>G); ClinVar=VCV003067164; Zygosity=Heterozygous (from parent cell line).
Disease Developmental and epileptic encephalopathy 6A (NCIt: C147071)
Dravet syndrome (ORDO: Orphanet_33069)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZE23 (USTCi001-A)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=32977294; DOI=10.1016/j.scr.2020.102003
Hui-Fang Zhao, Lang He, Hua-Lin Huang, Shuai Li, Na Cheng, Feng Tang, Xiao-Bo Han, Zuo-Xian Lin, Rong-Qi Huang, Peng Zhou, Si-Hao Deng ...Show all 13 authors... , Ju-Fang Huang, Zhi-Yuan Li; Show fewer authors
Generation of a tdTomato-GAD67 reporter human epilepsia mutation induced pluripotent stem cell line, USTCi001-A-2, using CRISPR/Cas9 editing.
Stem Cell Res. 48:102003-102003(2020)

Cross-references
Cell line databases/resources hPSCreg; USTCi001-A-2
Encyclopedic resources Wikidata; Q102115089
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number10