Publications | DOI=10.5962/bhl.title.4090 Coriell L.L., Greene A.E. The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977. (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977) CLPUB00387 Coriell L.L., Greene A.E., Mulivor R.A. The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980. (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980) CLPUB00720 Greene A.E., Mulivor R.A. 1986/1987 catalog of cell lines. NIGMS human genetic mutant cell repository. 13th edition. October 1986. (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda; USA (1986) CLPUB00447 Mulivor R.A., Suchy S.F. 1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992. (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992) PubMed=17668376; DOI=10.1086/519248; PMCID=PMC1950802 Prandini P., Deutsch S., Lyle R., Gagnebin M., Delucinge-Vivier C., Delorenzi M., Gehrig C., Descombes P., Sherman S.L., Dagna-Bricarelli F., Baldo C., Novelli A., Dallapiccola B., Antonarakis S.E. Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. Am. J. Hum. Genet. 81:252-263(2007) PubMed=28284873; DOI=10.1016/j.nmd.2017.02.002; PMCID=PMC5403612 Stabley D.L., Holbrook J., Harris A.W., Swoboda K.J., Crawford T.O., Sol-Church K., Butchbach M.E.R. Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR. Neuromuscul. Disord. 27:439-446(2017) PubMed=29125828; DOI=10.1242/dmm.030536; PMCID=PMC5719256 Napierala J.S., Li Y.-J., Lu Y., Lin K., Hauser L.A., Lynch D.R., Napierala M. Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers. Dis. Model. Mech. 10:1353-1369(2017) PubMed=32291635; DOI=10.1007/s12035-020-01899-1; PMCID=PMC7253519 Misiorek J.O., Schreiber A.M., Urbanek-Trzeciak M.O., Hauser L.A., Lynch D.R., Napierala J.S., Napierala M. A comprehensive transcriptome analysis identifies FXN and BDNF as novel targets of miRNAs in Friedreich's ataxia patients. Mol. Neurobiol. 57:2639-2653(2020) PubMed=33038742; DOI=10.1016/j.scr.2020.102011; PMCID=PMC7810501 Xu X.-G., Pradhan M., Xu M., Cheng Y.-S., Beers J.K., Linask K.L., Lin Y.-S., Zheng W., Zou J.-Z. Four induced pluripotent stem cell lines (TRNDi021-C, TRNDi023-D, TRNDi024-D and TRNDi025-A) generated from fibroblasts of four healthy individuals. Stem Cell Res. 49:102011-102011(2020) PubMed=35850241; DOI=10.1016/j.jlr.2022.100255; PMCID=PMC9399481 Wang D.-Z., Ho E.S., Cotticelli M.G., Xu J.P.-N., Napierala J.S., Hauser L.A., Napierala M., Himes B.E., Wilson R.B., Lynch D.R., Mesaros C. Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia. J. Lipid Res. 63:100255.1-100255.14(2022) |