ID   GM16200
AC   CVCL_N258
SY   GM18088
DR   CLO; CLO_0015739
DR   CLO; CLO_0019368
DR   Coriell; GM16200
DR   Coriell; GM18088
DR   Wikidata; Q54848357
CC   Part of: Human variation panel.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[830]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM18088).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[<30]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM18088).
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   34Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 10-04-25; Version: 16
//