ID   GM25390
AC   CVCL_BX32
DR   Coriell; GM25390
DR   Wikidata; Q54853919
CC   Sequence variation: Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Arg458Lysfs*14 (c.1370dupG); ClinVar=VCV000126422; Zygosity=Heterozygous (Coriell=GM25390).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   49Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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