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Cellosaurus UNIBSi008-B (CVCL_YB52)

[Text version]

Cell line name UNIBSi008-B
Synonyms AT-MC-C2
Accession CVCL_YB52
Resource Identification Initiative To cite this cell line use: UNIBSi008-B (RRID:CVCL_YB52)
Comments From: University of Brescia; Brescia; Italy.
Population: Caucasian.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 795; ATM; Simple; g.108105741_108115748del (Ex5-7del); Zygosity=Heterozygous (PubMed=31669783).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_YB51 ! UNIBSi008-A
CVCL_YB53 ! UNIBSi008-C
Sex of cell Female
Age at sampling 19Y
Category Induced pluripotent stem cell
Publications

PubMed=31669783; DOI=10.1016/j.scr.2019.101596
Masneri S., Ferraro R.M., Lanzi G., Piovani G., Mori L., Barisani C., Moratto D., Plebani A., Badolato R., Soresina A., Giliani S.
Generation of induced pluripotent stem cells (UNIBSi008-A, UNIBSi008-B, UNIBSi008-C) from an ataxia-telangiectasia (AT) patient carrying a novel homozygous deletion in ATM gene.
Stem Cell Res. 41:101596-101596(2019)

Cross-references
Cell line databases/resources hPSCreg; UNIBSi008-B
Encyclopedic resources Wikidata; Q98134290
Entry history
Entry creation19-Dec-2019
Last entry update20-May-2021
Version number4