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Cellosaurus USTCi002-A (CVCL_A4DS)

[Text version]
Cell line name USTCi002-A
Accession CVCL_A4DS
Resource Identification Initiative To cite this cell line use: USTCi002-A (RRID:CVCL_A4DS)
Comments From: School of Life Sciences, University of Science and Technology of China; Hefei; China.
Population: Caucasian.
Derived from site: In situ; Fetal lung; UBERON=UBERON_0005597.
Cell type: Fibroblast of lung; CL=CL_0002553.
Sequence variations
  • Mutation; HGNC; 10585; SCN1A; Simple_edited; p.Gln1923Arg (c.5768A>G); Zygosity=Heterozygous; Note=By TALEN (PubMed=33189042).
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_A4DT (Nor-iPSC)
Sex of cell Female
Age at sampling 16FW
Category Induced pluripotent stem cell
Publications

PubMed=33189042; DOI=10.1016/j.scr.2020.102058
Zhao H.-F., Li S., Lin Z.-X., He L., Deng W.-Y., Han X.-B., Tang F., Cheng N., Zhou P., Huang R.-Q., Deng S.-H., Huang J.-F., Li Z.-Y.
A heterozygous SCN1A (c.A5768G/+) mutant human induced pluripotent stem cell line (USTCi002-A) generated using TALEN-mediated precise gene editing.
Stem Cell Res. 49:102058-102058(2020)

Cross-references
Cell line databases/resources hPSCreg; USTCi002-A
Encyclopedic resources Wikidata; Q105511648
Entry history
Entry creation12-Jan-2021
Last entry update05-Oct-2023
Version number7