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Cellosaurus DS-1-iPSC (CVCL_A3ZB)

[Text version]
Cell line name DS-1-iPSC
Accession CVCL_A3ZB
Resource Identification Initiative To cite this cell line use: DS-1-iPSC (RRID:CVCL_A3ZB)
Comments Population: Korean.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4976; HLCS; Simple; p.Gly261Valfs*20 (c.782delG); ClinVar=VCV000203777; Zygosity=Heterozygous (PubMed=29295803).
  • Mutation; HGNC; HGNC:10585; SCN1A; Simple; p.Gly1410Trp (c.4261G>T); Zygosity=Heterozygous (PubMed=29295803).
Disease Developmental and epileptic encephalopathy 6A (NCIt: C147071)
Dravet syndrome (ORDO: Orphanet_33069)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=29295803; DOI=10.1016/j.braindev.2017.12.002
Kim H.W., Quan Z.-J., Kim Y.-B., Cheong E., Kim H.D., Cho M.-J., Jang J., Yoo Y.R., Lee J.S., Kim J.H., Kim Y.I., Kim D.-S., Kang H.-C.
Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients.
Brain Dev. 40:287-298(2018)

Cross-references
Cell line databases/resources SKIP; SKIP003049
Encyclopedic resources Wikidata; Q105506772
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7