Publications | DOI=10.5962/bhl.title.4090 Lewis Lemon Coriell, Arthur E. Greene; 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 Lewis Lemon Coriell, Arthur E. Greene, Richard A. Mulivor; 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 Arthur E. Greene, Richard A. Mulivor; 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 Richard A. Mulivor, Sharon F. Suchy; 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 Paola Prandini, Samuel Deutsch, Robert Lyle, Maryline Gagnebin, Celine Delucinge-Vivier, Mauro Delorenzi, Corinne Gehrig, Patrick Descombes, Stephanie L. Sherman, Franca Dagna-Bricarelli, Chiara Baldo ...Show all 14 authors... , Antonio Novelli, Bruno Dallapiccola, Stylianos E. Antonarakis; Show fewer authors 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 Deborah L. Stabley, Jennifer Holbrook, Ashlee W. Harris, Kathryn J. Swoboda, Thomas Owen Crawford, Katia Sol-Church, Matthew E.R. Butchbach; 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 Jill Sergesketter Napierala, Yan-Jie Li, Yue Lu, Kevin Lin, Lauren A. Hauser, David R. Lynch, Marek Napierala; 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 Julia Oliwia Misiorek, Anna Maria Schreiber, Martyna Olga Urbanek-Trzeciak, Lauren A. Hauser, David R. Lynch, Jill Sergesketter Napierala, Marek Napierala; 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 Xiao-Gang Xu, Manisha Pradhan, Miao Xu, Yu-Shan Cheng, Jeanette K. Beers, Kaari Liisi Linask, Yong-Shun Lin, Wei Zheng, Ji-Zhong Zou; 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 De-Zhen Wang, Elaine S. Ho, M. Grazia Cotticelli, Jimmy Pei-Ning Xu, Jill Sergesketter Napierala, Lauren A. Hauser, Marek Napierala, Blanca E. Himes, Robert B. Wilson, David R. Lynch, Clementina Mesaros; Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia. J. Lipid Res. 63:100255.1-100255.14(2022) |