ID   UMILi012-A
AC   CVCL_YC75
SY   WVS02
DR   BioSamples; SAMEA6049768
DR   hPSCreg; UMILi012-A
DR   Wikidata; Q98134176
CC   From: University of Milan; Milan; Italy.
CC   Sequence variation: Mutation; HGNC; 3527; EZH2; Simple; p.Val626Met (c.1876G>A) (V621M); ClinVar=VCV000158579; Zygosity=Heterozygous (hPSCreg=UMILi012-A).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C125599; Weaver syndrome
DI   ORDO; Orphanet_3447; Weaver syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 9
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