ID   GM03816
AC   CVCL_F193
SY   GM-3816
DR   CLO; CLO_0015531
DR   BioSample; SAMN00808548
DR   Coriell; GM03816
DR   Wikidata; Q54838252
RX   CelloPub=CLPUB00447;
RX   PubMed=28444186;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[330]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM03816).
CC   Sequence variation: Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[380]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM03816).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84718; Friedreich ataxia
DI   ORDO; Orphanet_95; Friedreich ataxia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   36Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 17
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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).
//
RX   PubMed=28444186; DOI=10.1093/hmg/ddx141;
RA   Jasoliya M.J., McMackin M.Z., Henderson C.K., Perlman S.L.,
RA   Cortopassi G.A.;
RT   "Frataxin deficiency impairs mitochondrial biogenesis in cells, mice
RT   and humans.";
RL   Hum. Mol. Genet. 26:2627-2633(2017).
//