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Cellosaurus UNIBSi003-A (CVCL_QX80)

[Text version]

Cell line name UNIBSi003-A
Synonyms MI37
Accession CVCL_QX80
Resource Identification Initiative To cite this cell line use: UNIBSi003-A (RRID:CVCL_QX80)
Comments From: University of Brescia; Brescia; Italy.
Population: Caucasian.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 9005; PITX2; Simple; p.Met200Val (c.598A>G) (p.Met207Val, c.619A>G); ClinVar=VCV000559593; Zygosity=Heterozygous (PubMed=29034898).
Disease Atrial fibrillation (NCIt: C50466)
Familial atrial fibrillation (ORDO: Orphanet_334)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 24Y
Category Induced pluripotent stem cell
Publications

PubMed=29034898; DOI=10.1016/j.scr.2017.08.007
Mora C., Serzanti M., Giacomelli A., Beltramone S., Marchina E., Bertini V., Piovani G., Refsgaard L., Olesen M.S., Cortellini V., Dell'Era P.
Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation.
Stem Cell Res. 24:8-11(2017)

Cross-references
Cell line databases/resources hPSCreg; UNIBSi003-A
Encyclopedic resources Wikidata; Q54991236
Entry history
Entry creation15-Nov-2017
Last entry update20-May-2021
Version number6