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Cellosaurus UMILi001-A (CVCL_YC65)

[Text version]
Cell line name UMILi001-A
Synonyms KAB07
Accession CVCL_YC65
Resource Identification Initiative To cite this cell line use: UMILi001-A (RRID:CVCL_YC65)
Comments From: University of Milan; Milan; Italy.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 7133; KMT2D; Simple; p.Arg2635Ter (c.7903C>T); ClinVar=VCV000196692; Zygosity=Unspecified (hPSCreg=UMILi001-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; UMILi001-A
Biological sample resources BioSamples; SAMEA6049736
Encyclopedic resources Wikidata; Q98134155
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number8