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Cellosaurus UMILi004-A (CVCL_YC68)

[Text version]

Cell line name UMILi004-A
Synonyms KAB04
Accession CVCL_YC68
Resource Identification Initiative To cite this cell line use: UMILi004-A (RRID:CVCL_YC68)
Comments From: University of Milan; Milan; Italy.
Derived from sampling site: Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 7133; KMT2D; Simple; p.Arg2635Ter (c.7903C>T); ClinVar=VCV000196692; 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 Female
Category Induced pluripotent stem cell
Cell line databases/resources hPSCreg; UMILi004-A
Biological sample resources BioSamples; SAMEA6049748
Encyclopedic resources Wikidata; Q98134160
Entry history
Entry creation19-Dec-2019
Last entry update16-Dec-2021
Version number6