ID   GM26249
AC   CVCL_LH30
DR   Coriell; GM26249
DR   Wikidata; Q54854091
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:29331; EPG5; Simple; p.Gln336Arg (c.1007A>G); ClinVar=VCV000192333; Zygosity=Homozygous (Coriell=GM26249).
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_LH34 ! GM26636
SX   Male
AG   10Y
CA   Transformed cell line
DT   Created: 15-11-17; Last updated: 19-12-24; Version: 11
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