GM05565
Fibroblast from Skin, Inguinal area
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 |
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Biopsy Source
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Inguinal 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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Fibroblast from Skin, Inguinal area
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Race
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Hispanic/Latino
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis and 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 |
4.24 |
| Passage Frozen |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Remarks |
Hispanic; skin biopsy (inguinal); past history of asthma; 46,XY |
| Amiri F, Mistriotis P, Leveraging Cell Migration Dynamics to Discriminate Between Senescent and Presenescent Human Mesenchymal Stem Cells Cellular and molecular bioengineering17:385-399 2024 |
| PubMed ID: 39513008 |
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| Garapati K, Ranatunga W, Joshi N, Budhraja R, Sabu S, Kantautas KA, Preston G, Perlstein EO, Kozicz T, Morava E, Pandey A, N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts Glycobiology34:385-399 2024 |
| PubMed ID: 39360848 |
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| Pehlivan D, Bengtsson JD, Bajikar SS, Grochowski CM, Lun MY, Gandhi M, Jolly A, Trostle AJ, Harris HK, Suter B, Aras S, Ramocki MB, Du H, Mehaffey MG, Park K, Wilkey E, Karakas C, Eisfeldt JJ, Pettersson M, Liu L, Shinawi MS, Kimonis VE, Wiszniewski W, Mckenzie K, Roser T, Vianna-Morgante AM, Cornier AS, Abdelmoity A, Hwang JP, Jhangiani SN, Muzny DM, Mitani T, Muramatsu K, Nabatame S, Glaze DG, Fatih JM, Gibbs RA, Liu Z, Lindstrand A, Sedlazeck FJ, Lupski JR, Zoghbi HY, Carvalho CMB, Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression Genome medicine16:146 2024 |
| PubMed ID: 39696717 |
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| Son SM, Park SJ, Breusegem SY, Larrieu D, Rubinsztein DC, p300 nucleocytoplasmic shuttling underlies mTORC1 hyperactivation in Hutchinson-Gilford progeria syndrome Nature cell biology16:146 2024 |
| PubMed ID: 38267537 |
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| Ullman JC, Dick RA, Linzner D, Minga T, Tep S, Satterfield TF, Xi Y, Beattie DT, Marmon T, Neutel JM, Chung B, Leeds JM, Noonberg SB, Green EM, Bernstein HS, First-in-Human Evaluation of Safety, Pharmacokinetics and Muscle Glycogen Lowering of a Novel Glycogen Synthase 1 Inhibitor for the Treatment of Pompe Disease Clinical pharmacology and therapeutics116:1580-1592 2024 |
| PubMed ID: 39439155 |
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| Vieira Neto E, Wang M, Szuminsky AJ, Ferraro L, Koppes E, Wang Y, Van't Land C, Mohsen AW, Zanatta G, El-Gharbawy AH, Anthonymuthu TS, Tyurina YY, Tyurin VA, Kagan V, Bayir H, Vockley J, Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency JCI insight9:1580-1592 2024 |
| PubMed ID: 39088276 |
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| Fafián-Labora JA, O'Loghlen A, NF-?B/IKK activation by small extracellular vesicles within the SASP Aging cell20:e13426 2021 |
| PubMed ID: 34187082 |
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| Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupré T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D, University of Washington Center for Mendelian Genomics (UW-CMG) D, Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH, A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction American journal of human genetics108:1040-1052 2021 |
| PubMed ID: 33964207 |
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| Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG, DDD Study KG, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD, Care4Rare Canada Consortium KD, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H, CAUSES Study H, Martin MG, Martinez-Agosto JA, Undiagnosed Diseases Network JA, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ, Histone H33 beyond cancer: Germline mutations in Science advances6:1040-1052 2020 |
| PubMed ID: 33268356 |
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| Fafián-Labora JA, Rodríguez-Navarro JA, O'Loghlen A, Small Extracellular Vesicles Have GST Activity and Ameliorate Senescence-Related Tissue Damage Cell metabolism6:1040-1052 2020 |
| PubMed ID: 32574561 |
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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 communications6:1040-1052 2020 |
| PubMed ID: 32115145 |
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| Park JW, Han SB, Hah J, Lee G, Kim JK, Kim SH, Kim DH, Biological Aging Modulates Cell Migration via Lamin A/C-Dependent Nuclear Motion Micromachines11:1040-1052 2020 |
| PubMed ID: 32847135 |
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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 disease11:1040-1052 2020 |
| PubMed ID: 32395830 |
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| Ciesiolka A, Stroynowska-Czerwinska A, Joachimiak P, Ciolak A, Kozlowska E, Michalak M, Dabrowska M, Olejniczak M, Raczynska KD, Zielinska D, Wozna-Wysocka M, Krzyzosiak WJ, Fiszer A, Artificial miRNAs targeting CAG repeat expansion in ORFs cause rapid deadenylation and translation inhibition of mutant transcripts Cellular and molecular life sciences : CMLS11:1040-1052 2019 |
| PubMed ID: 32696070 |
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| 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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| Flint M, Chatterjee P, Lin DL, McMullan LK, Shrivastava-Ranjan P, Bergeron É, Lo MK, Welch SR, Nichol ST, Tai AW, Spiropoulou CF, A genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus Nature communications10:285 2018 |
| PubMed ID: 30655525 |
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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 |
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| Sola-Carvajal A, Revêchon G, Helgadottir HT, Whisenant D, Hagblom R, Döhla J, Katajisto P, Brodin D, Fagerström-Billai F, Viceconte N, Eriksson M, Accumulation of Progerin Affects the Symmetry of Cell Division and Is Associated with Impaired Wnt Signaling and the Mislocalization of Nuclear Envelope Proteins The Journal of investigative dermatology139:2272-2280.e12 2018 |
| PubMed ID: 31128203 |
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| Budel L, Djabali K, Rapid isolation and expansion of skin-derived precursor cells from human primary fibroblast cultures Biology open6:1745-1755 2017 |
| PubMed ID: 29141956 |
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| Drouin-Ouellet J, Pircs K, Barker RA, Jakobsson J, Parmar M, Direct Neuronal Reprogramming for Disease Modeling Studies Using Patient-Derived Neurons: What Have We Learned? Frontiers in neuroscience11:530 2017 |
| PubMed ID: 29033781 |
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| Chen JY, Lin JR, Tsai FC, Meyer T., Dosage of Dyrk1a Shifts Cells within a p21-Cyclin D1 Signaling Map to Control the Decision to Enter the Cell Cycle. Mol Cell.52(1):87-100 2013 |
| PubMed ID: 24119401 |
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| Korade Z, Xu L, Harrison FE, Ahsen R, Hart SE, Folkes OM, Mirnics K, Porter NA, Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome Biol Psychiatry52(1):87-100 2013 |
| PubMed ID: 23896203 |
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| Liu ML, Zang T, Zou Y, Chang JC, Gibson JR, Huber KM, Zhang CL, Small molecules enable neurogenin 2 to efficiently convert human fibroblasts into cholinergic neurons Nature communications4:2183 2013 |
| PubMed ID: 23873306 |
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| Kudo M, Brem MS, Canfield WM, Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase alpha / beta -Subunits Precursor Gene. Am J Hum Genet78(3):451-63 2006 |
| PubMed ID: 16465621 |
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| PubMed ID: 16569742 |
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| PubMed ID: 16424117 |
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| PubMed ID: 14657428 |
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| Umeda A, Fujita H, Kuronita T, Hirosako K, Himeno M, Tanaka Y, Distribution and trafficking of MPR300 is normal in cells with cholesterol accumulated in late endocytic compartments: evidence for early endosome-to-TGN trafficking of MPR300. J Lipid Res44(10):1821-32 2003 |
| PubMed ID: 12867541 |
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| PubMed ID: 12095913 |
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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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| Nesslinger NJ, Gorski JL, Kurczynski TW, Shapira SK, Siegel-Bartelt J, Dumanski JP, Cullen RF Jr, French BN, McDermid HE, Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3. Am J Hum Genet54:464-72 1994 |
| PubMed ID: 7906921 |
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| Ostlund RE Jr, Yang JW, Heath-Monnig E, Semenkovich CF, Increased low density lipoprotein receptor expression mediated through the insulin-like growth factor-I receptor in cultured fibroblasts. Mol Endocrinol8:904-9 1994 |
| PubMed ID: 7527123 |
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| Bucan M, Gatalica B, Nolan P, Chung A, Leroux A, Grossman MH, Nadeau JH, Emanuel BS, Budarf M, Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse. Hum Mol Genet2:1245-52 1993 |
| PubMed ID: 8401507 |
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| McDermid HE, Budarf ML, Emanuel BS, Long-range restriction map of human chromosome 22q11-22q12 between the lambda immunoglobulin locus and the Ewing sarcoma breakpoint. Genomics18:308-18 1993 |
| PubMed ID: 7507075 |
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| Tollefsen SE, Heath-Monnig E, Cascieri MA, Bayne ML, Daughaday WH, Endogenous insulin-like growth factor (IGF) binding proteins cause IGF- 1 resistance in cultured fibroblasts from a patient with short stature. J Clin Invest87:1241-50 1991 |
| PubMed ID: 1707060 |
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| Budarf M, Sellinger B, Griffin C, Emanuel BS, Comparative mapping of the constitutional and tumor-associated 11;22 translocations. Am J Hum Genet45:128-39 1989 |
| PubMed ID: 2741943 |
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| Heath-Monnig E, Daughaday WH, Sensitization of human fibroblasts to insulin-like growth factor I by serum deprivation and dexamethasone pretreatment. Endocr Res15:303-322 1989 |
| PubMed ID: 2547600 |
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| Shireman RB, Muth J, Toth JP, [14C]acetate incorporation by cultured normal, familial hypercholesterolemia and Down's syndrome fibroblasts. Biochim Biophys Acta958:352-60 1988 |
| PubMed ID: 2963664 |
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| Heath-Monnig E, Wohltmann HJ, Mills-Dunlap B, Daughaday WH, Measurement of insulin-like growth factor I (IGF-I) responsiveness of fibroblasts of children with short stature: identification of a patient with IGF-I resistance. J Clin Endocrinol Metab64:501-7 1987 |
| PubMed ID: 3818890 |
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| Hinman LM, Ksiezak-Reding H, Baker AC, Blass JP, Pigeon liver phosphoprotein phosphatase: an effective activator of pyruvate dehydrogenase in tissue homogenates. Arch Biochem Biophys246:381-90 1986 |
| PubMed ID: 3008658 |
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| Shireman RB, Wei CI, Uptake of 2,3,7,8-tetrachlorodibenzo-p-dioxin from plasma lipoproteins by cultured human fibroblasts. Chem Biol Interact58:1-12 1986 |
| PubMed ID: 3708718 |
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| Coates PM, Hale DE, Stanley CA, Corkey BE, Cortner JA, Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes. Pediatr Res19:671-6 1985 |
| PubMed ID: 4022673 |
| Passage Frozen |
4 |
| Split Ratio |
1:4 |
| 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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