ID   UMILi015-A
AC   CVCL_YC78
SY   WVS03
DR   BioSamples; SAMEA6049772
DR   hPSCreg; UMILi015-A
DR   Wikidata; Q98134182
CC   From: University of Milan; Milan; Italy.
CC   Sequence variation: Mutation; HGNC; HGNC:3527; EZH2; Simple; p.Ala738Thr (c.2212G>A) (A733T); ClinVar=VCV001307224; Zygosity=Heterozygous (hPSCreg=UMILi015-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: 19-12-24; Version: 10
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