ID   KCLi001-A
AC   CVCL_VN39
SY   iOP118
DR   BioSamples; SAMEA4932834
DR   hPSCreg; KCLi001-A
DR   Wikidata; Q94337744
RX   PubMed=30075366;
CC   From: King's College London; London; United Kingdom.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3748; FLG; Simple; p.Ser761Cysfs*36 (c.2278_2281CAGT[1]) (c.2282_2285delCAGT); ClinVar=VCV000016320; Zygosity=Heterozygous (PubMed=30075366).
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: 07-09-18; Last updated: 29-06-23; Version: 7
//
RX   PubMed=30075366; DOI=10.1016/j.scr.2018.07.014;
RA   Devito L.G., Donne M., Kolundzic N., Khurana P., Hobbs C., Kaddour G.,
RA   Dubrac S., Gruber R., Schmuth M., Mauro T., Ilic D.;
RT   "Induced pluripotent stem cell line from an atopic dermatitis patient
RT   heterozygous for c.2282del4 mutation in filaggrin: KCLi001-A.";
RL   Stem Cell Res. 31:122-126(2018).
//