Cellosaurus cell line UNIBSi006-C (CVCL

Cross-references
Cell line name	UNIBSi006-C
Synonyms	AGS1_MM_C14
Accession	CVCL_YB47
Resource Identification Initiative	To cite this cell line use: UNIBSi006-C (RRID:CVCL_YB47)
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:12269; TREX1; Simple; p.Ser88fs*22 (c.260insAG); Zygosity=Heterozygous (PubMed=31644995). Mutation; HGNC; HGNC:12269; TREX1; Simple; p.Arg97His (c.290G>A); ClinVar=VCV000225498; Zygosity=Heterozygous (PubMed=31644995).
Disease	Aicardi-Goutieres syndrome 1 (NCIt: C165501) Aicardi-Goutieres syndrome (ORDO: Orphanet_51)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_YB45 ! UNIBSi006-A CVCL_YB46 ! UNIBSi006-B
Sex of cell	Male
Age at sampling	5Y
Category	Induced pluripotent stem cell
Publications	PubMed=31644995; DOI=10.1016/j.scr.2019.101580 Ferraro R.M., Lanzi G., Masneri S., 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 iPSC lines from fibroblasts of a patient with Aicardi Goutieres syndrome mutated in TREX1. Stem Cell Res. 41:101580-101580(2019)
Cell line databases/resources	hPSCreg; UNIBSi006-C
Encyclopedic resources	Wikidata; Q98134280
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	9