GM05399
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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White
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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 |
2.87 |
| Passage Frozen |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Remarks |
Skin biopsy (inguinal); 46,XY; 8% of cells show random chromosome loss and 4% are polyploid |
| Best HL, Cook SR, Waller-Evans H, Lloyd-Evans E, Niemann-Pick C-like Endolysosomal Dysfunction in DHDDS Patient Cells, a Congenital Disorder of Glycosylation, Can Be Treated with Miglustat International journal of molecular sciences26: 2025 |
| PubMed ID: 40003936 |
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| Lee SE, Baxter LL, Duran MI, Morris SD, Mosley IA, Fuentes KA, Pennings JLA, Guedj F, Bianchi DW, Analysis of genotype effects and inter-individual variability in iPSC-derived trisomy 21 neural progenitor cells Human molecular genetics26: 2025 |
| PubMed ID: 39533854 |
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| Han ST, Kim AC, Garcia K, Schimmenti LA, Macnamara E, Network UD, Gahl WA, Malicdan MC, Tifft CJ, PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation Molecular genetics and metabolism135:221-229 2022 |
| PubMed ID: 35144859 |
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| 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 2022 |
| PubMed ID: 35042660 |
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| 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 2022 |
| PubMed ID: 36213313 |
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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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| 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:e13426 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:e13426 2020 |
| PubMed ID: 32574561 |
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| Day AH, Übler MH, Best HL, Lloyd-Evans E, Mart RJ, Fallis IA, Allemann RK, Al-Wattar EAH, Keymer NI, Buurma NJ, Pope SJA, Targeted cell imaging properties of a deep red luminescent iridium(iii) complex conjugated with a c-Myc signal peptide Chemical science11:1599-1606 2019 |
| PubMed ID: 32206278 |
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| Gupta A, Rivera-Molina F, Xi Z, Toomre D, Schepartz A, Endosome motility defects revealed at super-resolution in live cells using HIDE probes Nature chemical biology11:1599-1606 2019 |
| PubMed ID: 32094922 |
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| Shen D, Xu B, Liang K, Tang R, Sudlow GP, Egbulefu C, Guo K, Som A, Gilson R, Maji D, Mondal S, Habimana-Griffin L, Akers WJ, Li S, Liu Y, Bloch S, Kurkure S, Nussinov Z, Seidel A, Tsen SD, Achilefu S, Selective imaging of solid tumours via the calcium-dependent high-affinity binding of a cyclic octapeptide to phosphorylated Annexin A2 Nature biomedical engineering4:298-313 2019 |
| PubMed ID: 32165732 |
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| Tebbenkamp ATN, Varela L, Choi J, Paredes MI, Giani AM, Song JE, Sestan-Pesa M, Franjic D, Sousa AMM, Liu ZW, Li M1, Bichsel C, Koch M, Szigeti-Buck K, Liu F, Li Z, Kawasawa YI, Paspalas CD, Mineur YS, Prontera P, Merla G, Picciotto MR, Arnsten AFT, Horvath TL, Sestan N, The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development Cell175:1088-1104 2018 |
| PubMed ID: 30318146 |
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| Wheeler S, Haberkant P, Bhardwaj M, Tongue P, Ferraz MJ, Halter D, Sprong H, Schmid R, Aerts JMFG, Sullo N, Sillence DJ, Cytosolic glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease Neurobiology of disease127:242-252 2018 |
| PubMed ID: 30872158 |
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| Höglinger D, Burgoyne T, Sanchez-Heras E, Hartwig P, Colaco A, Newton J, Futter CE, Spiegel S, Platt FM, Eden ER, NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress Nature communications10:4276 2017 |
| PubMed ID: 31537798 |
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| Godschalk RW, Ersson C, Riso P, Porrini M, Langie SA, van Schooten FJ, Azqueta A, Collins AR, Jones GD, Kwok RW, Phillips DH, Sozeri O, Allione A, Matullo G, Möller L, Forchhammer L, Loft S, Møller P., DNA-repair measurements by use of the modified comet assay: An inter-laboratory comparison within the European Comet Assay Validation Group (ECVAG). Mutat Res.757(1):60-7 2013 |
| PubMed ID: 23830929 |
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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 Psychiatry757(1):60-7 2013 |
| PubMed ID: 23896203 |
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| Loughlin DT1, Artlett CM., 3-Deoxyglucosone-collagen alters human dermal fibroblast migration and adhesion: implications for impaired wound healing in patients with diabetes. Wound Repair Regen17(5):739-49 2009 |
| PubMed ID: 19769726 |
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| Sassi-Gaha S, Loughlin DT, Kappler F, Schwartz ML, Su B, Tobia AM, Artlett CM, Two dicarbonyl compounds, 3-deoxyglucosone and methylglyoxal, differentially modulate dermal fibroblasts Matrix biology : journal of the International Society for Matrix Biology29:127-34 2009 |
| PubMed ID: 19800404 |
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| Duarte TL, Jones GD, Vitamin C modulation of H2O2-induced damage and iron homeostasis in human cells Free radical biology & medicine43:1165-75 2007 |
| PubMed ID: 17854712 |
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| Duarte TL, Almeida GM, Jones GD, Investigation of the role of extracellular H2O2 and transition metal ions in the genotoxic action of ascorbic acid in cell culture models Toxicology letters170:57-65 2006 |
| PubMed ID: 17382497 |
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| Langie SA, Knaapen AM, Brauers KJ, van Berlo D, van Schooten FJ, Godschalk RW, Development and validation of a modified comet assay to phenotypically assess nucleotide excision repair Mutagenesis21:153-8 2006 |
| PubMed ID: 16556641 |
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| Park MA, Thoene JG, Potential role of apoptosis in development of the cystinotic phenotype Pediatric nephrology (Berlin, Germany)20:441-6 2004 |
| PubMed ID: 15622500 |
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| DeSimone JN, Bengtsson U, Wang X, Lao XY, Redpath JL, Stanbridge EJ, Complexity of the mechanisms of initiation and maintenance of DNA damage-induced G2-phase arrest and subsequent G1-phase arrest: TP53-dependent and TP53-independent roles Radiation research159:72-85 2002 |
| PubMed ID: 12492370 |
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| Leslie Redpath J, Bengtsson U, DeSimone J, Lao X, Wang X, Stanbridge EJ, Sticky anaphase aberrations after G2-phase arrest of gamma-irradiated human skin fibroblasts: TP53 independence of formation and TP53 dependence of consequences Radiation research159:57-71 2002 |
| PubMed ID: 12492369 |
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| Park M, Helip-Wooley A, Thoene J, Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and
renal tubular epithelial cells. J Am Soc Nephrol13(12):2878-87 2002 |
| PubMed ID: 12444206 |
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| Rodriguez A, Webster P, Ortego J, Andrews NW, Lysosomes behave as Ca2+-regulated exocytic vesicles in fibroblasts and epithelial cells. J Cell Biol137(1):93-104 1997 |
| PubMed ID: 9105039 |
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| Li CY, Nagasawa H, Dahlberg WK, Little JB, Diminished capacity for p53 in mediating a radiation-induced G1 arrest in established human tumor cell lines. Oncogene11:1885-92 1995 |
| PubMed ID: 7478618 |
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| Weiss MJ, Ray K, Fallon MD, Whyte MP, Fedde KN, Lafferty MA, Mulivor RA, Harris H, Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia. Am J Hum Genet44:686-94 1989 |
| PubMed ID: 2705456 |
| 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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