ID   GM03665
AC   CVCL_U732
SY   GM03665A; F3665
DR   CLO; CLO_0015441
DR   BioSample; SAMN00808492
DR   Coriell; GM03665
DR   Wikidata; Q54838185
RX   CelloPub=CLPUB00447;
RX   PubMed=27002638;
RX   PubMed=29125828;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[816]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638).
CC   Sequence variation: Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[1400]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638).
CC   Omics: Transcriptome analysis by RNAseq.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84718; Friedreich ataxia
DI   ORDO; Orphanet_95; Friedreich ataxia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   13Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 13
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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=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).
//