ID   GM04078
AC   CVCL_T820
SY   GM-4078; F4078
DR   CLO; CLO_0016228
DR   ChEMBL-Cells; CHEMBL4802059
DR   Coriell; GM04078
DR   PubChem_Cell_line; CVCL_T820
DR   Wikidata; Q54838382
RX   CelloPub=CLPUB00447;
RX   PubMed=27002638;
RX   PubMed=28444186;
RX   PubMed=29125828;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[341]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638; PubMed=29125828).
CC   Sequence variation: Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[480]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638; PubMed=29125828).
CC   Omics: Transcriptome analysis by RNAseq.
CC   Caution: Indicated by Coriell to have 420 and 541 GAA repeats.
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
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)
OI   CVCL_T821 ! GM04079
SX   Male
AG   30Y
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 30-01-24; Version: 16
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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=27002638; DOI=10.1089/bio.2015.0117;
RA   Li Y.-J., Polak U., Clark A.D., Bhalla A.D., Chen Y.-Y., Li J.-X.,
RA   Farmer J., Seyer L., Lynch D.R., Butler J.S., Napierala M.;
RT   "Establishment and maintenance of primary fibroblast repositories for
RT   rare diseases -- Friedreich's ataxia example.";
RL   Biopreserv. Biobank. 14:324-329(2016).
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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).
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RX   PubMed=29125828; DOI=10.1242/dmm.030536;
RA   Napierala J.S., Li Y.-J., Lu Y., Lin K., Hauser L.A., Lynch D.R.,
RA   Napierala M.;
RT   "Comprehensive analysis of gene expression patterns in Friedreich's
RT   ataxia fibroblasts by RNA sequencing reveals altered levels of protein
RT   synthesis factors and solute carriers.";
RL   Dis. Model. Mech. 10:1353-1369(2017).
//