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Cellosaurus UMILi012-A (CVCL_YC75)

[Text version]
Cell line name UMILi012-A
Synonyms WVS02
Accession CVCL_YC75
Resource Identification Initiative To cite this cell line use: UMILi012-A (RRID:CVCL_YC75)
Comments From: University of Milan; Milan; Italy.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 3527; EZH2; Simple; p.Val626Met (c.1876G>A) (V621M); ClinVar=VCV000158579; Zygosity=Heterozygous (hPSCreg=UMILi012-A).
Disease Weaver syndrome (NCIt: C125599)
Weaver syndrome (ORDO: Orphanet_3447)
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; UMILi012-A
Biological sample resources BioSamples; SAMEA6049768
Encyclopedic resources Wikidata; Q98134176
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number9