ID   GM25598
AC   CVCL_EH33
DR   Coriell; GM25598
DR   Wikidata; Q54854026
CC   Sequence variation: Mutation; HGNC; HGNC:17646; NGLY1; Simple; c.881+5G>T (IVS5+5G>T); ClinVar=VCV000221584; Zygosity=Heterozygous (Coriell=GM25598).
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_RT68 ! GM26600
SX   Male
AG   47Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 11
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