ID   GM16212
AC   CVCL_N260
SY   GM18090
DR   CLO; CLO_0015754
DR   CLO; CLO_0019337
DR   Coriell; GM16212
DR   Coriell; GM18090
DR   Wikidata; Q54848368
CC   Part of: Human variation panel.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[<30]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM18090).
CC   Sequence variation: Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[500]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM18090).
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   63Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 30-01-24; Version: 14
//