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Cellosaurus DCGi001-A (CVCL_YT17)

[Text version]
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; 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
Waite A.J., Millar D., Clarke A.
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)

Cross-references
Cell line databases/resources hPSCreg; DCGi001-A
Encyclopedic resources Wikidata; Q93503905
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number8