ID   GM16229
AC   CVCL_0V04
DR   CLO; CLO_0019251
DR   Coriell; GM16229
DR   Wikidata; Q54848389
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[<30]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM16229).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[670]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM16229).
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   44Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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