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Cellosaurus UNIBSi003-A (CVCL_QX80)

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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 site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 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
Cristina Mora, Marialaura Serzanti, Alessio Giacomelli, Silvia Beltramone, Eleonora Marchina, Valeria Bertini, Giovanna Piovani, Lena Refsgaard, Morten Salling Olesen, Venusia Cortellini, Patrizia Dell'Era;
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 update19-Dec-2024
Version number9