ID   GM04896
AC   CVCL_AA36
DR   CLO; CLO_0025771
DR   Coriell; GM04896
DR   Wikidata; Q54838746
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:5959; ELP1; Simple; c.2204+6T>C (2507+6T>C) (IVS20+6T>C) (Ex20del); ClinVar=VCV000006085; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM04896).
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_AA35 ! GM04895
SX   Female
AG   41Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 10
//