ID   KCLi003-A
AC   CVCL_UK22
SY   iOP101
DR   BioSamples; SAMEA4932838
DR   hPSCreg; KCLi003-A
DR   Wikidata; Q94337752
RX   PubMed=31408836;
CC   From: King's College London; London; United Kingdom.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3748; FLG; Simple; p.Arg501Ter (c.1501C>T); ClinVar=VCV000016319; Zygosity=Heterozygous (PubMed=31408836).
CC   Derived from sampling site: Skin; epidermis. Cell type=Keratinocyte.
DI   NCIt; C3001; Eczema
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 16-12-21; Version: 6
//
RX   PubMed=31408836; DOI=10.1016/j.scr.2019.101527;
RA   Kolundzic N., Khurana P., Devito L., Jeriha J., Marx J., Hobbs C.,
RA   Wong X.-F.C.C., Common J.E.A., Liovic M., Dubrac S., Gruber R.,
RA   Schmuth M., Mauro T.M., Ilic D.;
RT   "Induced pluripotent stem cell line heterozygous for p.R501X mutation
RT   in filaggrin: KCLi003-A.";
RL   Stem Cell Res. 39:101527-101527(2019).
//