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Cellosaurus MRIi024-A (CVCL_A0SZ)

[Text version]
Cell line name MRIi024-A
Synonyms Shox2.2
Accession CVCL_A0SZ
Resource Identification Initiative To cite this cell line use: MRIi024-A (RRID:CVCL_A0SZ)
Comments From: Klinikum rechts der Isar, Technical University of Munich; Munich; Germany.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:10854; SHOX2; Simple; p.His259Gln (c.777C>A) (p.His283Gln, c.849C>A); Zygosity=Heterozygous (PubMed=32976766).
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 66Y
Category Induced pluripotent stem cell
Publications

PubMed=32976766; DOI=10.1016/j.stemcr.2020.08.015; PMCID=PMC7562944
Sumer S.A., Hoffmann S., Laue S., Campbell B., Raedecke K., Frajs V., Clauss S., Kaab S., Janssen J.W.G., Jauch A., Laugwitz K.-L., Dorn T., Moretti A., Rappold G.A.
Precise correction of heterozygous SHOX2 mutations in hiPSCs derived from patients with atrial fibrillation via genome editing and sib selection.
Stem Cell Reports 15:999-1013(2020)

Cross-references
Cell line databases/resources hPSCreg; MRIi024-A
Biological sample resources BioSamples; SAMEA9466941
Encyclopedic resources Wikidata; Q108820973
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number6