ID   UMILi013-A
AC   CVCL_YC76
SY   WVS01
DR   BioSamples; SAMEA6049770
DR   hPSCreg; UMILi013-A
DR   Wikidata; Q98134178
CC   From: University of Milan; Milan; Italy.
CC   Sequence variation: Mutation; HGNC; 3527; EZH2; Simple; p.Pro132Ser (c.394C>T); ClinVar=VCV000030200; Zygosity=Heterozygous (hPSCreg=UMILi013-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   Female
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 8
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