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Cellosaurus MRIi016-A-2 (CVCL_D0EB)

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Cell line name MRIi016-A-2
Synonyms B7 ctrl SHOX2 KO; UKHGi017-A-2
Accession CVCL_D0EB
Resource Identification Initiative To cite this cell line use: MRIi016-A-2 (RRID:CVCL_D0EB)
Comments From: Institute of Human Genetics, University Hospital Heidelberg; Heidelberg; Germany.
Population: Caucasian.
Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:10854; SHOX2.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:10854; SHOX2; Simple_corrected; c.*28T>C; dbSNP=rs138912749; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (from parent cell line).
Disease Atrial fibrillation (NCIt: C50466)
Familial atrial fibrillation (ORDO: Orphanet_334)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_D0EA (MRIi016-A-1)
Sex of cell Male
Age at sampling 45Y
Category Induced pluripotent stem cell
Publications

PubMed=37028180; DOI=10.1016/j.scr.2023.103089
Kristin Radecke, Ambuj Gore, Karin Burau, Magdalena Laugsch, Katrin Kohler, Gudrun Anna Rappold, Sandra Hoffmann;
Generation of two homozygous SHOX2 knock-out human induced pluripotent stem cell lines using CRISPR/Cas9.
Stem Cell Res. 69:103089-103089(2023)

Cross-references
Cell line databases/resources hPSCreg; MRIi016-A-2
Biological sample resources BioSamples; SAMEA112465910
Encyclopedic resources Wikidata; Q123033124
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3