ID   AG18376
AC   CVCL_X821
DR   CLO; CLO_0011723
DR   Coriell; AG18376
DR   Wikidata; Q54746787
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9949; RECQL4; Simple; c.1391-1G>A (g.2626G>A); ClinVar=VCV000006067; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=AG18376).
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_X823 ! AG18459
SX   Female
AG   53Y
CA   Transformed cell line
DT   Created: 05-09-14; Last updated: 19-12-24; Version: 14
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