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Cellosaurus UNIBSi009-C (CVCL_YB56)

[Text version]

Cell line name UNIBSi009-C
Synonyms AGS7-GS-C7.4
Accession CVCL_YB56
Resource Identification Initiative To cite this cell line use: UNIBSi009-C (RRID:CVCL_YB56)
Comments From: University of Brescia; Brescia; Italy.
Population: Caucasian.
Derived from sampling site: Skin.
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_YB54 ! UNIBSi009-A
Sex of cell Male
Age at sampling 14Y
Category Induced pluripotent stem cell

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.
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)

Cell line databases/resources hPSCreg; UNIBSi009-C
Encyclopedic resources Wikidata; Q98134300
Entry history
Entry creation19-Dec-2019
Last entry update20-May-2021
Version number5