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Cellosaurus UNIBSi008-C (CVCL_YB53)

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Cell line name UNIBSi008-C
Synonyms AT-MC-C12
Accession CVCL_YB53
Resource Identification Initiative To cite this cell line use: UNIBSi008-C (RRID:CVCL_YB53)
Comments From: University of Brescia; Brescia; Italy.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:795; ATM; Simple; chr11: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_YB52 ! UNIBSi008-B
Sex of cell Female
Age at sampling 19Y
Category Induced pluripotent stem cell
Publications

PubMed=31669783; DOI=10.1016/j.scr.2019.101596
Stefania Masneri, Rosalba Monica Ferraro, Gaetana Lanzi, Giovanna Piovani, Luigi Mori, Chiara Barisani, Daniele Moratto, Alessandro Plebani, Raffaele Badolato, Annarosa Soresina, Silvia Clara Giliani;
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-C
Encyclopedic resources Wikidata; Q98134292
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number8