NA05381
DNA from Fibroblast
Description:
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Umbilical area
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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Black/African American
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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 |
5.55 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
Umbilical area skin |
| Radenkovic S, Budhraja R, Klein-Gunnewiek T, King AT, Bhatia TN, Ligezka AN, Driesen K, Shah R, Ghesquière B, Pandey A, Kasri NN, Sloan SA, Morava E, Kozicz T, Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models Cell reports43:113883 2023 |
| PubMed ID: 38430517 |
| |
| 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 Cells12:113883 2022 |
| PubMed ID: 36899894 |
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| Radenkovic S, Ligezka AN, Mokashi SS, Driesen K, Dukes-Rimsky L, Preston G, Owuocha LF, Sabbagh L, Mousa J, Lam C, Edmondson A, Larson A, Schultz M, Vermeersch P, Cassiman D, Witters P, Beamer LJ, Kozicz T, Flanagan-Steet H, Ghesquière B, Morava E, Tracer metabolomics reveals the role of aldose reductase in glycosylation Cell reports Medicine12:101056 2022 |
| PubMed ID: 37257447 |
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| Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E, Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications Annals of neurology12:101056 2021 |
| PubMed ID: 34652821 |
| |
| Radenkovic S, Martinelli D, Zhang Y, Preston GJ, Maiorana A, Terracciano A, Dentici ML, Pisaneschi E, Novelli A, Ranatunga W, Ligezka AN, Ghesquière B, Deyle DR, Kozicz T, Pinto E Vairo F, Witters P, Morava E, TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability Genetics in medicine : official journal of the American College of Medical Genetics24:894-904 2021 |
| PubMed ID: 35042660 |
| |
| Ramarajan MG, Saraswat M, Budhraja R, Garapati K, Raymond K, Pandey A, Mass spectrometric analysis of chondroitin sulfate-linked peptides Journal of proteins and proteomics13:187-203 2021 |
| PubMed ID: 36213313 |
| |
| Han SY, Pandey A, Moore T, Galeone A, Duraine L, Cowan TM, Jafar-Nejad H, A conserved role for AMP-activated protein kinase in NGLY1 deficiency PLoS genetics16:e1009258 2020 |
| PubMed ID: 33315951 |
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| Lee J, Bignone PA, Coles LS, Liu Y, Snyder E, Larocca D, Induced pluripotency and spontaneous reversal of cellular aging in supercentenarian donor cells Biochemical and biophysical research communications16:e1009258 2020 |
| PubMed ID: 32115145 |
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| Tambe MA, Ng BG, Shimada S, Wolfe LA, Adams DR, Undiagnosed Diseases Network DR, Gahl WA, Bamshad MJ, Nickerson DA, University of Washington Centre for Mendelian Genomics DA, Malicdan MCV, Freeze HH, Mutations in GET4 disrupt the transmembrane domain recognition complex pathway Journal of inherited metabolic disease16:e1009258 2020 |
| PubMed ID: 32395830 |
| |
| Bordi M, Darji S, Sato Y, Mellén M, Berg MJ, Kumar A, Jiang Y, Nixon RA, mTOR hyperactivation in Down Syndrome underlies deficits in autophagy induction, autophagosome formation, and mitophagy Cell death & disease10:563 2019 |
| PubMed ID: 31332166 |
| |
| Jiang Y, Sato Y, Im E, Berg M, Bordi M, Darji S, Kumar A, Mohan PS, Bandyopadhyay U, Diaz A, Cuervo AM, Nixon RA, Lysosomal Dysfunction in Down Syndrome Is APP-Dependent and Mediated by APP-ßCTF (C99) The Journal of neuroscience : the official journal of the Society for Neuroscience39:5255-5268 2019 |
| PubMed ID: 31043483 |
| |
| Tambe MA, Ng BG, Freeze HH, N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity Cell reports29:4620-4631.e4 2019 |
| PubMed ID: 31875565 |
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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 Biology19:4620-4631.e4 2018 |
| PubMed ID: 30567591 |
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| Sanchez-Roman I1, Lautrup S2, Aamann MD2, Neilan EG3, Østergaard JR4, Stevnsner T5., Two Cockayne Syndrome patients with a novel splice site mutation - clinical and metabolic analyses. Mechanisms of Ageing and Development
175:7-16 2018 |
| PubMed ID: 29944916 |
| |
| Bellodi C, Kopmar N, Ruggero D, Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita The EMBO journal29:1865-76 2009 |
| PubMed ID: 20453831 |
| |
| Gray SJ, Gerhardt J, Doerfler W, Small LE, Fanning E, An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene Molecular and cellular biology27:426-37 2006 |
| PubMed ID: 17101793 |
| |
| Raile K, Klammt J, Schneider A, Keller A, Laue S, Smith R, Pfäffle R, Kratzsch J, Keller E, Kiess W, Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R The Journal of clinical endocrinology and metabolism91:2264-71 2006 |
| PubMed ID: 16569742 |
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| Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D, Pfaffle R, Raile K, Seidel B, Smith RJ, Chernausek SD; Intrauterine Growth Retardation (IUGR) Study Group, IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. N Engl J Med349(23):2211-22 2003 |
| PubMed ID: 14657428 |
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| Sohar I, Sleat DE, Jadot M, Lobel P, Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models. J Neurochem73:700-11 1999 |
| PubMed ID: 10428067 |
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| Kase R, Itoh K, Takiyama N, Oshima A, Sakuraba H, Suzuki Y, Galactosialidosis: simultaneous deficiency of esterase, carboxy- terminal deamidase and acid carboxypeptidase activities. Biochem Biophys Res Commun172:1175-9 1990 |
| PubMed ID: 2244901 |
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