ID   GM27900
AC   CVCL_ZI04
DR   Coriell; GM27900
DR   Wikidata; Q98126641
CC   Sequence variation: Mutation; HGNC; HGNC:29331; EPG5; Simple; p.Trp865Ter (c.2595G>A); Zygosity=Heterozygous (Coriell=GM27900).
CC   Sequence variation: Mutation; HGNC; HGNC:29331; EPG5; Simple; p.Leu1067Tyrfs*10 (c.3200delT); Zygosity=Heterozygous (Coriell=GM27900).
CC   Sequence variation: Mutation; HGNC; HGNC:13890; ITCH; Simple; c.337+2T>C; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM27900).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C138174; Vici syndrome
DI   ORDO; Orphanet_1493; Vici syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZI03 ! GM27898
SX   Female
AG   4M
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
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