ID   GM16227
AC   CVCL_U746
DR   CLO; CLO_0019287
DR   Coriell; GM16227
DR   Wikidata; Q54848387
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[630]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM16227).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[830]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM16227).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84718; Friedreich ataxia
DI   ORDO; Orphanet_95; Friedreich ataxia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   25Y
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 15
//