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Cellosaurus USTCi001-A-1 (CVCL_ZU60)

[Text version]
Cell line name USTCi001-A-1
Accession CVCL_ZU60
Resource Identification Initiative To cite this cell line use: USTCi001-A-1 (RRID:CVCL_ZU60)
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; HGNC:10585; SCN1A; Simple_corrected; p.Gln1923Arg (c.5768A>G); ClinVar=VCV003067164; Zygosity=Heterozygous; Note=By TALEN (PubMed=32544858).
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=32544858; DOI=10.1016/j.scr.2020.101864
Zhao H.-F., He L., Li S., Huang H.-L., Tang F., Han X.-B., Lin Z.-X., Tian C., Huang R.-Q., Zhou P., Huang J.-F., Deng S.-H., Li Z.-Y.
Generation of corrected-hiPSC (USTCi001-A-1) from epilepsy patient iPSCs using TALEN-mediated editing of the SCN1A gene.
Stem Cell Res. 46:101864-101864(2020)

Cross-references
Cell line databases/resources hPSCreg; USTCi001-A-1
SKIP; SKIP005779
Encyclopedic resources Wikidata; Q98134374
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number9