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Cellosaurus MRIi016-A-1 (CVCL_D0EA)

[Text version]
Cell line name MRIi016-A-1
Synonyms B7 ctrl; SHOX2 c.*28T>C_isoWT; UKHGi017-A-1
Accession CVCL_D0EA
Resource Identification Initiative To cite this cell line use: MRIi016-A-1 (RRID:CVCL_D0EA)
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; 10854; SHOX2; Simple_corrected; c.*28T>C; dbSNP=rs138912749; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32976766).
Disease Atrial fibrillation (NCIt: C50466)
Familial atrial fibrillation (ORDO: Orphanet_334)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A0TA (MRIi016-A)
CVCL_D0EB (MRIi016-A-2)
Sex of cell Male
Age at sampling 45Y
Category Induced pluripotent stem cell

PubMed=32976766; DOI=10.1016/j.stemcr.2020.08.015
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)

PubMed=37028180; DOI=10.1016/j.scr.2023.103089
Radecke K., Gore A., Burau K., Laugsch M., Kohler K., Rappold G.A., Hoffmann S.
Generation of two homozygous SHOX2 knock-out human induced pluripotent stem cell lines using CRISPR/Cas9.
Stem Cell Res. 69:103089-103089(2023)

Cell line databases/resources hPSCreg; MRIi016-A-1
Biological sample resources BioSamples; SAMEA112450469
Encyclopedic resources Wikidata; Q123033122
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2