ID   DCGi001-A
AC   CVCL_YT17
SY   FS_E154#3; FOXG1-E154GfsX301-#1-3
DR   hPSCreg; DCGi001-A
DR   Wikidata; Q93503905
RX   PubMed=33096386;
CC   From: Division of Cancer and Genetics, School of Medicine, Cardiff University; Cardiff; United Kingdom.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3811; FOXG1; Simple; p.Glu154Glyfs*301 (c.460dupG); ClinVar=VCV000095268; Zygosity=Heterozygous (PubMed=33096386).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C176903; Rett syndrome, congenital variant
DI   ORDO; Orphanet_3095; Atypical Rett syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 8
//
RX   PubMed=33096386; DOI=10.1016/j.scr.2020.102018;
RA   Waite A.J., Millar D., Clarke A.;
RT   "The generation of an induced pluripotent stem cell line (DCGi001-A)
RT   from an individual with FOXG1 syndrome carrying the c.460dupG
RT   (p.Glu154fs) variation in the FOXG1 gene.";
RL   Stem Cell Res. 49:102018-102018(2020).
//