ID   GM16215
AC   CVCL_N262
SY   GM18092
DR   CLO; CLO_0015756
DR   CLO; CLO_0019278
DR   Coriell; GM16215
DR   Coriell; GM18092
DR   Wikidata; Q54848378
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=GM18092).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[<30]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM18092).
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   41Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 10-04-25; Version: 16
//