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Cellosaurus USTCi001-A (CVCL_ZE23)

[Text version]
Cell line name USTCi001-A
Synonyms Epi-hiPSC
Accession CVCL_ZE23
Resource Identification Initiative To cite this cell line use: USTCi001-A (RRID:CVCL_ZE23)
Comments From: School of Life Sciences, University of Science and Technology of China; Hefei; China.
Population: Asian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 10585; SCN1A; Simple; p.Gln1923Arg (c.5768A>G); Zygosity=Heterozygous (PubMed=32335389).
Disease Developmental and epileptic encephalopathy 6A (NCIt: C147071)
Dravet syndrome (ORDO: Orphanet_33069)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_ZU60 (USTCi001-A-1)CVCL_A1QQ (USTCi001-A-2)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=32335389; DOI=10.1016/j.scr.2020.101785
Zhao H.-F., Li S.-H., He L., Han X.-B., Huang H.-L., Tang F., Lin Z.-X., Deng S.-H., Tian C., Huang R.-Q., Li Z.-Y.
Generation of iPSC line (USTCi001-A) from human skin fibroblasts of a patient with epilepsy.
Stem Cell Res. 45:101785-101785(2020)

Cross-references
Cell line databases/resources hPSCreg; USTCi001-A
SKIP; SKIP005741
Encyclopedic resources Wikidata; Q98134372
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number8