ID   GM28785
AC   CVCL_D6YR
DR   Coriell; GM28785
CC   Population: Asian and Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11055; SLC6A8; Simple; c.1016+2T>C; ClinVar=VCV000520792; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM28785).
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   13Y
CA   Transformed cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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