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Cellosaurus UMILi005-A (CVCL_YC69)

Cell line name UMILi005-A
Synonyms KAB05
Accession CVCL_YC69
Resource Identification Initiative To cite this cell line use: UMILi005-A (RRID:CVCL_YC69)
Comments From: University of Milan; Milan; Italy.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 7133; KMT2D; Simple; p.Arg3321Ter (c.9961C>T); ClinVar=VCV000183371; Zygosity=Unspecified (hPSCreg=UMILi005-A).
Disease Kabuki syndrome (NCIt: C124837)
Kabuki syndrome (ORDO: Orphanet_2322)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; UMILi005-A
Biological sample resources BioSamples; SAMEA6032590
Encyclopedic resources Wikidata; Q98134162
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number8