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Cellosaurus UMILi003-A (CVCL_YC67)

[Text version]
Cell line name UMILi003-A
Synonyms KAB03
Accession CVCL_YC67
Resource Identification Initiative To cite this cell line use: UMILi003-A (RRID:CVCL_YC67)
Comments From: University of Milan; Milan; Italy.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:7133; KMT2D; Simple; p.Pro235Glnfs*26 (c.702delG); ClinVar=VCV000547399; Zygosity=Unspecified (hPSCreg=UMILi003-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; UMILi003-A
Biological sample resources BioSamples; SAMEA6049744
Encyclopedic resources Wikidata; Q98134159
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number8