ID   GM04079
AC   CVCL_T821
DR   CLO; CLO_0016225
DR   Coriell; GM04079
DR   Wikidata; Q54838383
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[341]; ClinVar=VCV000561195; Zygosity=Heterozygous (from autologous cell line GM04078).
CC   Sequence variation: Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[480]; ClinVar=VCV000561195; Zygosity=Heterozygous (from autologous cell line GM04078).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Caution: Indicated by Coriell to have 420 and 541 GAA repeats.
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)
OI   CVCL_T820 ! GM04078
SX   Male
AG   30Y
CA   Transformed cell line
DT   Created: 03-02-14; Last updated: 30-01-24; Version: 17
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//