ID   GM25597
AC   CVCL_EH32
DR   Coriell; GM25597
DR   Wikidata; Q54854024
CC   Sequence variation: Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Ser116Ter (c.347C>G); ClinVar=VCV000221579; Zygosity=Heterozygous (Coriell=GM25597).
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_RT67 ! GM26599
SX   Female
AG   48Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 11
//