Description:
APPARENTLY HEALTHY INDIVIDUAL
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Apparently Healthy Collection |
Class |
Disorders of the Nervous System |
Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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PDL at Freeze |
4.62 |
Passage Frozen |
3 |
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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Remarks |
See GM7491 Lymphoid |
Cencelli G, Pacini L, De Luca A, Messia I, Gentile A, Kang Y, Nobile V, Tabolacci E, Jin P, Farace MG, Bagni C, Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals Cells12: 2022 |
PubMed ID: 36899894 |
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Niss F, Piñero-Paez L, Zaidi W, Hallberg E, Ström AL, Key Modulators of the Stress Granule Response TIA1, TDP-43, and G3BP1 Are Altered by Polyglutamine-Expanded ATXN7 Molecular neurobiology59:5236-5251 2022 |
PubMed ID: 35689166 |
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Oh YM, Lee SW, Kim WK, Chen S, Church VA, Cates K, Li T, Zhang B, Dolle RE, Dahiya S, Pak SC, Silverman GA, Perlmutter DH, Yoo AS, Age-related Huntington's disease progression modeled in directly reprogrammed patient-derived striatal neurons highlights impaired autophagy Nature neuroscience25:1420-1433 2022 |
PubMed ID: 36303071 |
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Rogalska Z, Sobczak K, Sustainable recovery of MBNL activity in autoregulatory feedback loop in myotonic dystrophy Molecular therapy Nucleic acids30:438-448 2022 |
PubMed ID: 36420218 |
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Bhattacharyya A, Trotta CR, Narasimhan J, Wiedinger KJ, Li W, Effenberger KA, Woll MG, Jani MB, Risher N, Yeh S, Cheng Y, Sydorenko N, Moon YC, Karp GM, Weetall M, Dakka A, Gabbeta V, Naryshkin NA, Graci JD, Tripodi T, Southwell A, Hayden M, Colacino JM, Peltz SW, Small molecule splicing modifiers with systemic HTT-lowering activity Nature communications12:7299 2021 |
PubMed ID: 34911927 |
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Konieczny P, Mukherjee S, Stepniak-Konieczna E, Taylor K, Niewiadomska D, Piasecka A, Walczak A, Baud A, Dohno C, Nakatani K, Sobczak K, Cyclic mismatch binding ligands interact with disease-associated CGG trinucleotide repeats in RNA and suppress their translation Nucleic acids research12:7299 2021 |
PubMed ID: 34358321 |
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Marineau JJ, Hamman KB, Hu S, Alnemy S, Mihalich J, Kabro A, Whitmore KM, Winter DK, Roy S, Ciblat S, Ke N, Savinainen A, Wilsily A, Malojcic G, Zahler R, Schmidt D, Bradley MJ, Waters NJ, Chuaqui C, Discovery of SY-5609: A Selective, Noncovalent Inhibitor of CDK7 Journal of medicinal chemistry12:7299 2021 |
PubMed ID: 34726887 |
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Napierala JS, Rajapakshe K, Clark A, Chen YY, Huang S, Mesaros C, Xu P, Blair IA, Hauser LA, Farmer J, Lynch DR, Edwards DP, Coarfa C, Napierala M, Reverse phase protein array reveals correlation of retinoic acid metabolism with cardiomyopathy in Friedreich's ataxia Molecular & cellular proteomics : MCP12:100094 2021 |
PubMed ID: 33991687 |
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Ramírez-Jarquín UN, Sharma M, Zhou W, Shahani N, Subramaniam S, Deletion of SUMO1 attenuates behavioral and anatomical deficits by regulating autophagic activities in Huntington disease Proceedings of the National Academy of Sciences of the United States of America119:100094 2021 |
PubMed ID: 35086928 |
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Wagner-Griffin S, Abe M, Benhamou RI, Angelbello AJ, Vishnu K, Chen JL, Childs-Disney JL, Disney MD, A Druglike Small Molecule that Targets r(CCUG) Repeats in Myotonic Dystrophy Type 2 Facilitates Degradation by RNA Quality Control Pathways Journal of medicinal chemistry64:8474-8485 2021 |
PubMed ID: 34101465 |
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Wang D, Ho ES, Cotticelli MG, Xu P, Napierala JS, Hauser LA, Napierala M, Himes BE, Wilson RB, Lynch DR, Mesaros C, Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia Journal of lipid research63:100255 2021 |
PubMed ID: 35850241 |
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Benhamou RI, Angelbello AJ, Andrews RJ, Wang ET, Moss WN, Disney MD, Structure-Specific Cleavage of an RNA Repeat Expansion with a Dimeric Small Molecule Is Advantageous over Sequence-Specific Recognition by an Oligonucleotide ACS chemical biology63:100255 2020 |
PubMed ID: 31927948 |
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Eshraghi M, Karunadharma PP, Blin J, Shahani N, Ricci EP, Michel A, Urban NT, Galli N, Sharma M, Ramírez-Jarquín UN, Florescu K, Hernandez J, Subramaniam S, Mutant Huntingtin stalls ribosomes and represses protein synthesis in a cellular model of Huntington disease Nature communications12:1461 2020 |
PubMed ID: 33674575 |
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Even A, Morelli G, Turchetto S, Shilian M, Bail RL, Laguesse S, Krusy N, Brisker A, Brandis A, Inbar S, Chariot A, Saudou F, Dietrich P, Dragatsis I, Brone B, Broix L, Rigo JM, Weil M, Nguyen L, ATP-citrate lyase promotes axonal transport across species Nature communications12:5878 2020 |
PubMed ID: 34620845 |
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Figueirêdo PMS, Sampaio Filho JC, Sodré AJS, de Castro Júnior JR, Gonçalves IS, Blasques RV, S Correa R, Lima BAV, Dos Anjos Marques L, Coutinho DF, de Azevedo Dos Santos APS, Luz TRSA, de Miranda RCM, Dos Santos JRA, Doriguetto AC, Pividori MI, Hörner M, Villis PCM, Assessment of the biological potential of diaryltriazene-derived triazene compounds Scientific reports11:2541 2020 |
PubMed ID: 33510223 |
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Franchi LP, de Freitas Lima JEB, Piva HL, Tedesco AC, The redox function of apurinic/apyrimidinic endonuclease 1 as key modulator in photodynamic therapy Journal of photochemistry and photobiology B, Biology211:111992 2020 |
PubMed ID: 32805556 |
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Madhivanan K, Ramadesikan S, Hsieh WC, Aguilar MC, Hanna CB, Bacallao RL, Aguilar RC, Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins Human molecular genetics211:111992 2020 |
PubMed ID: 32391547 |
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Rodden LN, Chutake YK, Gilliam K, Lam C, Soragni E, Hauser L, Gilliam M, Wiley G, Anderson MP, Gottesfeld JM, Lynch DR, Bidichandani SI, Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia Human molecular genetics29:3818-3829 2020 |
PubMed ID: 33432325 |
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Stepniak-Konieczna E, Konieczny P, Cywoniuk P, Dluzewska J, Sobczak K, AON-induced splice-switching and DMPK pre-mRNA degradation as potential therapeutic approaches for Myotonic Dystrophy type 1 Nucleic acids research29:3818-3829 2020 |
PubMed ID: 31965181 |
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Cacicedo ML, Pacheco G, Islan GA, Alvarez VA, Barud HS, Castro GR, Chitosan-bacterial cellulose patch of ciprofloxacin for wound dressing: Preparation and characterization studies International journal of biological macromolecules29:3818-3829 2019 |
PubMed ID: 31739047 |
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de Sousa IH, Campos VNS, Vale AAM, Maciel-Silva VL, Leite CM, Lopes AJO, Mourão PS, das Chagas Alves Lima F, Batista AA, de Azevedo Dos Santos APS, Almeida MAP, Pereira SRF, Ruthenium (II) complexes with N, O-chelating proline and threonine ligands cause selective cytotoxicity by the induction of genomic instability, cell cycle arrest and apoptosis in breast and prostate tumor cells Toxicology in vitro : an international journal published in association with BIBRA29:104679 2019 |
PubMed ID: 31676337 |
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Khan E, Biswas S, Mishra SK, Mishra R, Samanta S, Mishra A, Tawani A, Kumar A, Rationally designed small molecules targeting toxic CAG repeat RNA that causes Huntington's disease (HD) and spinocerebellar ataxia (SCAs) Biochimie163:21-32 2019 |
PubMed ID: 31075282 |
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Khan E, Mishra SK, Mishra R, Mishra A, Kumar A, Discovery of a potent small molecule inhibiting Huntington's disease (HD) pathogenesis via targeting CAG repeats RNA and Poly Q protein Scientific reports9:16872 2019 |
PubMed ID: 31728006 |
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Wehbe Z, Behringer S, Alatibi K, Watkins D, Rosenblatt D, Spiekerkoetter U, Tucci S, The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism Biochimica et biophysica acta Molecular and cell biology of lipids1864:1629-1643 2019 |
PubMed ID: 31376476 |
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Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Østern R, Houge G, Hafström M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM, Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons American journal of human genetics104:815-834 2018 |
PubMed ID: 31031012 |
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Bell S1, Maussion G1, Jefri M1, Peng H1, Theroux JF1, Silveira H1, Soubannier V2, Wu H1, Hu P1, Galat E3, Torres-Platas SG1, Boudreau-Pinsonneault C1, O'Leary LA1, Galat V3, Turecki G1, Durcan TM2, Fon EA2, Mechawar N1, Ernst C, Disruption of GRIN2B Impairs Differentiation in Human Neurons Stem Cell Reports11:183-196 2018 |
PubMed ID: 29937144 |
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Fleischer JG, Schulte R, Tsai HH, Tyagi S, Ibarra A, Shokhirev MN, Huang L, Hetzer MW, Navlakha S, Predicting age from the transcriptome of human dermal fibroblasts Genome Biology19:183-196 2018 |
PubMed ID: 30567591 |
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Jefri M, Bell S, Peng H, Hettige N, Maussion G, Soubannier V, Wu H, Silveira H, Theroux JF, Moquin L, Zhang X, Aouabed Z, Krishnan J, O'Leary LA, Antonyan L, Zhang Y, McCarty V, Mechawar N, Gratton A, Schuppert A, Durcan TM, Fon EA, Ernst C, Stimulation of L-type calcium channels increases tyrosine hydroxylase and dopamine in ventral midbrain cells induced from somatic cells Stem cells translational medicine19:183-196 2018 |
PubMed ID: 32154672 |
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Pilny E, Smolarczyk R, Jarosz-Biej M, Hadyk A, Skorupa A, Ciszek M, Krakowczyk L, Kulach N, Gillner D, Sokól M, Szala S, Cichon T, Human ADSC xenograft through IL-6 secretion activates M2 macrophages responsible for the repair of damaged muscle tissue Stem cell research & therapy10:93 2018 |
PubMed ID: 30867059 |
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Xu Z1, Lo WS2, Beck DB3, Schuch LA4, Oláhová M5, Kopajtich R6, Chong YE7, Alston CL5, Seidl E4, Zhai L8, Lau CF2, Timchak D9, LeDuc CA10, Borczuk AC11, Teich AF12, Juusola J13, Sofeso C14, Müller C15, Pierre G16, Hilliard T16, Turnpenny PD17, Wagner M18, Kappler M4, Brasch F19, Bouffard JP20, Nangle LA7, Yang XL21, Zhang M22, Taylor RW5, Prokisch H6, Griese M4, Chung WK23, Schimmel P24., Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function American Journal of Human Genetics103:100-114 2018 |
PubMed ID: 29979980 |
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Napierala JS, Li Y, Lu Y, Lin K, Hauser LA, Lynch DR, 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 Disease models & mechanisms10:1353-1369 2017 |
PubMed ID: 29125828 |
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de Mezer M, Wojciechowska M, Napierala M, Sobczak K, Krzyzosiak WJ, Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference Nucleic acids research39:3852-63 2011 |
PubMed ID: 21247881 |
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Coon, B.G., Mukherjee, D., Hanna, C.B., Riese II, D.J., Lowe, M., and Aguilar, R.C., Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase Hum Molec Genet18(23):4478-4491 2009 |
PubMed ID: 19700499 |
Passage Frozen |
3 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Supplement |
- |
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