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Cellosaurus UNIBSi006-B (CVCL_YB46)

[Text version]

Cell line name UNIBSi006-B
Synonyms AGS1_MM_C13
Accession CVCL_YB46
Resource Identification Initiative To cite this cell line use: UNIBSi006-B (RRID:CVCL_YB46)
Comments From: University of Brescia; Brescia; Italy.
Population: Caucasian.
Derived from sampling site: Skin.
Sequence variations Mutation; HGNC; 12269; TREX1; Simple; p.Ser88fs*22 (c.260insAG); Zygosity=Heterozygous (PubMed=31644995).
Mutation; 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_YB47 ! UNIBSi006-C
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.
Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutieres syndrome mutated in TREX1.
Stem Cell Res. 41:101580-101580(2019)

Cross-references
Cell line databases/resources hPSCreg; UNIBSi006-B
Encyclopedic resources Wikidata; Q98134277
Entry history
Entry creation19-Dec-2019
Last entry update20-May-2021
Version number5