ID   UMILi014-A
AC   CVCL_YC77
SY   WVS04
DR   BioSamples; SAMEA6049766
DR   hPSCreg; UMILi014-A
DR   Wikidata; Q98134180
CC   From: University of Milan; Milan; Italy.
CC   Sequence variation: Mutation; HGNC; 3188; EED; Simple; p.His258Tyr (c.772C>T); ClinVar=VCV000430644; Zygosity=Heterozygous (hPSCreg=UMILi014-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: 7
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