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Cellosaurus UGENTi001-A-1 (CVCL_D0ML)

[Text version]
Cell line name UGENTi001-A-1
Synonyms UGENT-MFS003-CRISPR
Accession CVCL_D0ML
Resource Identification Initiative To cite this cell line use: UGENTi001-A-1 (RRID:CVCL_D0ML)
Comments From: Ghent University; Ghent; Belgium.
Population: Caucasian.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Cell type: Epithelial cell; CL=CL_0000066.
Sequence variations
  • Mutation; HGNC; 3603; FBN1; Simple_corrected; p.Ile2585Thr (c.7754T>C); ClinVar=VCV000163462; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36724552).
Disease Marfan syndrome (NCIt: C34807)
Marfan syndrome (ORDO: Orphanet_558)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_C6T5 (UGENTi001-A)
Sex of cell Male
Age at sampling 34Y
Category Induced pluripotent stem cell
Publications

PubMed=36724552; DOI=10.1016/j.scr.2023.103036
Aalders J., Leger L., Demolder A., Muino Mosquera L., Coucke P., Menten B., De Backer J., van Hengel J.
Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing.
Stem Cell Res. 67:103036-103036(2023)

Cross-references
Cell line databases/resources hPSCreg; UGENTi001-A-1
Biological sample resources BioSamples; SAMEA112285422
Encyclopedic resources Wikidata; Q123033695
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2