ID   KCLi002-A
AC   CVCL_UK21
SY   iOP107
DR   BioSamples; SAMEA4932836
DR   hPSCreg; KCLi002-A
DR   Wikidata; Q94337748
RX   PubMed=31103941;
CC   From: King's College London; London; United Kingdom.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3748; FLG; Simple; p.Arg2447Ter (c.7339C>T); ClinVar=VCV000050932; Zygosity=Heterozygous (PubMed=31103941).
CC   Derived from site: In situ; Skin, epidermis; UBERON=UBERON_0001003.
CC   Cell type: Keratinocyte; CL=CL_0000312.
DI   NCIt; C3001; Eczema
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=31103941; DOI=10.1016/j.scr.2019.101462;
RA   Kolundzic, Nikola
RA   Khurana, Preeti
RA   Devito, Liani Gasparini
RA   Donne, Matthew
RA   Hobbs, Carl
RA   Jeriha, Jakob
RA   Wong, Xuan-Fei Colin Cornelius
RA   Common, John E.A.
RA   Lane, Ellen Birgit
RA   Dubrac, Sandrine
RA   Gruber, Robert
RA   Schmuth, Matthias
RA   Mauro, Theodora M.
RA   Ilic, Dusko
RT   "Induced pluripotent stem cell line heterozygous for p.R2447X mutation
RT   in filaggrin: KCLi002-A.";
RL   Stem Cell Res. 38:101462-101462(2019).
//