Cellosaurus cell line UNIBSi009-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; UNIBSi009-A
Encyclopedic resources	Wikidata; Q98134294
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	9