ID   UMILi010-A
AC   CVCL_YC73
SY   GAD01
DR   BioSamples; SAMEA6049762
DR   hPSCreg; UMILi010-A
DR   Wikidata; Q98134171
CC   From: University of Milan; Milan; Italy.
CC   Sequence variation: Mutation; HGNC; 12856; YY1; Simple; p.Lys179Ter (c.535A>T); ClinVar=VCV000430621; Zygosity=Unspecified (hPSCreg=UMILi010-A).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C165531; Gabriele-de Vries syndrome
DI   ORDO; Orphanet_506358; Gabriele-de Vries 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: 7
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