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; 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: 29-06-23; Version: 8
//
RX   PubMed=31103941; DOI=10.1016/j.scr.2019.101462;
RA   Kolundzic N., Khurana P., Devito L.G., Donne M., Hobbs C., Jeriha J.,
RA   Wong X.-F.C.C., Common J.E.A., Lane E.B., Dubrac S., Gruber R.,
RA   Schmuth M., Mauro T.M., Ilic D.;
RT   "Induced pluripotent stem cell line heterozygous for p.R2447X mutation
RT   in filaggrin: KCLi002-A.";
RL   Stem Cell Res. 38:101462-101462(2019).
//