ID   GM28789
AC   CVCL_D6YV
DR   Coriell; GM28789
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Asn336del (c.1000AAC[2]) (c.1006_1008delAAC); ClinVar=VCV000265402; Zygosity=Heterozygous (from familial inference of GM28788).
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   38Y
CA   Transformed cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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