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Cellosaurus KCLi001-A (CVCL_VN39)

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Cell line name KCLi001-A
Synonyms iOP118
Accession CVCL_VN39
Resource Identification Initiative To cite this cell line use: KCLi001-A (RRID:CVCL_VN39)
Comments From: King's College London; London; United Kingdom.
Population: Caucasian.
Derived from site: In situ; Skin, epidermis; UBERON=UBERON_0001003.
Cell type: Keratinocyte; CL=CL_0000312.
Sequence variations
  • Mutation; HGNC; HGNC:3748; FLG; Simple; p.Ser761Cysfs*36 (c.2278_2281CAGT[1]) (c.2282_2285delCAGT); ClinVar=VCV000016320; Zygosity=Heterozygous (PubMed=30075366).
Disease Eczema (NCIt: C3001)
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=30075366; DOI=10.1016/j.scr.2018.07.014; PMCID=PMC7514110
Liani Gasparini Devito, Matthew Donne, Nikola Kolundzic, Preeti Khurana, Carl Hobbs, Gabriel Kaddour, Sandrine Dubrac, Robert Gruber, Matthias Schmuth, Theodora M. Mauro, Dusko Ilic;
Induced pluripotent stem cell line from an atopic dermatitis patient heterozygous for c.2282del4 mutation in filaggrin: KCLi001-A.
Stem Cell Res. 31:122-126(2018)

Cross-references
Cell line databases/resources hPSCreg; KCLi001-A
Biological sample resources BioSamples; SAMEA4932834
Encyclopedic resources Wikidata; Q94337744
Entry history
Entry creation07-Sep-2018
Last entry update19-Dec-2024
Version number8