ID   GM25348
AC   CVCL_BX30
DR   Coriell; GM25348
DR   Wikidata; Q54853884
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Arg401Ter (c.1201A>T); ClinVar=VCV000050962; Zygosity=Heterozygous (Coriell=GM25348).
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)
OI   CVCL_RT65 ! GM26608
SX   Female
AG   37Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 13
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