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Cellosaurus UNIBSi007-A (CVCL_YB48)

[Text version]

Cell line name UNIBSi007-A
Synonyms AGS2_MV_C3
Accession CVCL_YB48
Resource Identification Initiative To cite this cell line use: UNIBSi007-A (RRID:CVCL_YB48)
Comments From: University of Brescia; Brescia; Italy.
Population: Caucasian.
Derived from sampling site: Skin.
Sequence variations Mutation; 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_YB49 ! UNIBSi007-B
CVCL_YB50 ! UNIBSi007-C
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.
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutieres syndrome mutated in RNaseH2B.
Stem Cell Res. 41:101620-101620(2019)

Cross-references
Cell line databases/resources hPSCreg; UNIBSi007-A
Encyclopedic resources Wikidata; Q98134282
Entry history
Entry creation19-Dec-2019
Last entry update20-May-2021
Version number4