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Cellosaurus KCLi001-A (CVCL_VN39)

[Text version]
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; 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
Devito L.G., Donne M., Kolundzic N., Khurana P., Hobbs C., Kaddour G., Dubrac S., Gruber R., Schmuth M., Mauro T.M., Ilic D.
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 update29-Jun-2023
Version number7