ID   GM14519
AC   CVCL_0U91
DR   CLO; CLO_0031614
DR   Coriell; GM14519
DR   Wikidata; Q54847270
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[9]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM14519).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[~1285]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM14519).
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   Adult
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 15
//