ID   GM26597
AC   CVCL_RT83
DR   Coriell; GM26597
DR   Wikidata; Q54854115
CC   Sequence variation: Mutation; HGNC; HGNC:3157; EDA; Simple; p.Arg69Leu (c.206G>T); ClinVar=VCV000011032; Zygosity=Unspecified (Coriell=GM26597).
CC   Sequence variation: Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Trp535Ter (c.1604G>A); ClinVar=VCV000221577; Zygosity=Heterozygous (Coriell=GM26597).
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   31Y
CA   Transformed cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 9
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