ID   GM29337
AC   CVCL_F0YT
DR   Coriell; GM29337
CC   Population: Caucasian; Swedish.
CC   Sequence variation: Mutation; HGNC; HGNC:3151; ECHS1; Simple; p.Ala222Thr (c.664G>A); ClinVar=VCV000427193; Zygosity=Heterozygous (Coriell=GM29337).
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_F0ZB ! GM29405
SX   Male
AG   52Y
CA   Transformed cell line
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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