Cellosaurus cell line DCGi001-A (CVCL

Cross-references
Cell line name	DCGi001-A
Synonyms	FS_E154#3; FOXG1-E154GfsX301-#1-3
Accession	CVCL_YT17
Resource Identification Initiative	To cite this cell line use: DCGi001-A (RRID:CVCL_YT17)
Comments	From: Division of Cancer and Genetics, School of Medicine, Cardiff University; Cardiff; United Kingdom. Population: Caucasian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Glu154Glyfs*301 (c.460dupG); ClinVar=VCV000095268; Zygosity=Heterozygous (PubMed=33096386).
Disease	Rett syndrome, congenital variant (NCIt: C176903) Atypical Rett syndrome (ORDO: Orphanet_3095)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	18Y
Category	Induced pluripotent stem cell
Publications	PubMed=33096386; DOI=10.1016/j.scr.2020.102018 Adrian J. Waite, David Millar, Angus Clarke; The generation of an induced pluripotent stem cell line (DCGi001-A) from an individual with FOXG1 syndrome carrying the c.460dupG (p.Glu154fs) variation in the FOXG1 gene. Stem Cell Res. 49:102018-102018(2020)
Cell line databases/resources	hPSCreg; DCGi001-A
Encyclopedic resources	Wikidata; Q93503905
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	9