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Cellosaurus UMILi002-A (CVCL_YC66)

[Text version]

Cell line name UMILi002-A
Synonyms KAB01
Accession CVCL_YC66
Resource Identification Initiative To cite this cell line use: UMILi002-A (RRID:CVCL_YC66)
Comments From: University of Milan; Milan; Italy.
Derived from sampling site: Cell type=Fibroblast.
Sequence variations Mutation; HGNC; 7133; KMT2D; Simple; p.Cys197Alafs*11 (c.588del); Zygosity=Unspecified (hPSCreg).
Disease Kabuki syndrome (NCIt: C124837)
Kabuki syndrome (ORDO: Orphanet_2322)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; UMILi002-A
Biological sample resources BioSamples; SAMEA6049740
Encyclopedic resources Wikidata; Q98134156
Entry history
Entry creation19-Dec-2019
Last entry update16-Dec-2021
Version number5