Cellosaurus cell line UNIBSi007-C (CVCL

Cross-references
Cell line name	UNIBSi007-C
Synonyms	AGS2_MV_C6
Accession	CVCL_YB50
Resource Identification Initiative	To cite this cell line use: UNIBSi007-C (RRID:CVCL_YB50)
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:25671; RNASEH2B; Simple; p.Ala177Thr (c.529G>A); ClinVar=VCV000001262; Zygosity=Homozygous (PubMed=31678772).
Disease	Aicardi-Goutieres syndrome 2 (NCIt: C165673) Aicardi-Goutieres syndrome (ORDO: Orphanet_51)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_YB48 ! UNIBSi007-A CVCL_YB49 ! UNIBSi007-B
Sex of cell	Female
Age at sampling	10Y
Category	Induced pluripotent stem cell
Publications	PubMed=31678772; DOI=10.1016/j.scr.2019.101620 Ferraro R.M., Masneri S., Lanzi G., Barisani C., Piovani G., Savio G., Cattalini M., Galli J., Cereda C., Muzi-Falconi M., Orcesi S., Fazzi E., Giliani S.C. Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutieres syndrome mutated in RNaseH2B. Stem Cell Res. 41:101620-101620(2019)
Cell line databases/resources	hPSCreg; UNIBSi007-C
Encyclopedic resources	Wikidata; Q98134286
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	9