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Cellosaurus UNIBSi009-A (CVCL_YB54)

[Text version]
Cell line name UNIBSi009-A
Synonyms AGS7-GS-C3.A
Accession CVCL_YB54
Resource Identification Initiative To cite this cell line use: UNIBSi009-A (RRID:CVCL_YB54)
Comments From: University of Brescia; Brescia; Italy.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 18873; IFIH1; Simple; p.Arg824Lys (c.2471G>A); ClinVar=VCV000812536; Zygosity=Heterozygous (PubMed=31698194).
Disease Aicardi-Goutieres syndrome 7 (NCIt: C168585)
Aicardi-Goutieres syndrome (ORDO: Orphanet_51)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_YB55 ! UNIBSi009-B
CVCL_YB56 ! UNIBSi009-C
Sex of cell Male
Age at sampling 14Y
Category Induced pluripotent stem cell
Publications

PubMed=31698194; DOI=10.1016/j.scr.2019.101623
Masneri S., Lanzi G., Ferraro R.M., Barisani C., Piovani G., Savio G., Cattalini M., Galli J., Cereda C., Muzi-Falconi M., Orcesi S., Fazzi E., Giliani S.C.
Generation of three isogenic induced pluripotent stem cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutieres syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.
Stem Cell Res. 41:101623-101623(2019)

Cross-references
Cell line databases/resources hPSCreg; UNIBSi009-A
Encyclopedic resources Wikidata; Q98134294
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number8