GM05757
Fibroblast from Skin, Inguinal area
Description:
APPARENTLY HEALTHY INDIVIDUAL
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Apparently Healthy Collection |
|
Biopsy Source
|
Inguinal area
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Inguinal area
|
|
Race
|
Black/African American
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis and Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.51 |
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
Skin biopsy (inguinal); 46,XY |
| 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: 2024 |
| PubMed ID: 39360848 |
| |
| Hamamoto A, Kita N, Gowda SGB, Takatsu H, Nakayama K, Arita M, Hui SP, Shin HW, Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease Cell structure and function34: 2024 |
| PubMed ID: 38072450 |
| |
| Hartinger R, Singh K, Leverett J, Djabali K, Enhancing Cellular Homeostasis: Targeted Botanical Compounds Boost Cellular Health Functions in Normal and Premature Aging Fibroblasts Biomolecules14: 2024 |
| PubMed ID: 39456243 |
| |
| 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 |
| |
| 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 2024 |
| PubMed ID: 38430517 |
| |
| 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 Medicine43:101056 2023 |
| PubMed ID: 37257447 |
| |
| Brophy ML, Stansfield JC, Ahn Y, Cheng SH, Murphy JE, Bell RD, AAV-mediated expression of galactose-1-phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts Journal of inherited metabolic disease43:101056 2022 |
| PubMed ID: 34918784 |
| |
| Khosravifarsani M, Ait-Mohand S, Paquette B, Sanche L, Guérin B, High Cytotoxic Effect by Combining Copper-64 with a NOTA-Terpyridine Platinum Conjugate Journal of medicinal chemistry43:101056 2021 |
| PubMed ID: 33909440 |
| |
| Khosravifarsani M, Ait-Mohand S, Paquette B, Sanche L, Guérin B, Design, Synthesis, and Cytotoxicity Assessment of [ Nanomaterials (Basel, Switzerland)11:101056 2021 |
| PubMed ID: 34578470 |
| |
| 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 neurology11:101056 2021 |
| PubMed ID: 34652821 |
| |
| Dan X, Babbar M, Moore A, Wechter N, Tian J, Mohanty JG, Croteau DL, Bohr VA, DNA damage invokes mitophagy through a pathway involving Spata18 Nucleic acids research11:101056 2020 |
| PubMed ID: 32453416 |
| |
| Zhang Q, Lu QB, New combination chemotherapy of cisplatin with an electron-donating compound for treatment of multiple cancers Scientific reports11:788 2020 |
| PubMed ID: 33436996 |
| |
| Abi Habib W, Brioude F, Azzi S, Rossignol S, Linglart A, Sobrier ML, Giabicani É, Steunou V, Harbison MD, Le Bouc Y, Netchine I, Transcriptional profiling at the Science advances5:eaau9425 2018 |
| PubMed ID: 30801013 |
| |
| Adams J, Feuerborn M, Molina JA, Wilden AR, Adhikari B, Budden T, Lee SY, Autophagy-lysosome pathway alterations and alpha-synuclein up-regulation in the subtype of neuronal ceroid lipofuscinosis, CLN5 disease Scientific reports9:151 2018 |
| PubMed ID: 30655561 |
| |
| 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 Biology19:151 2018 |
| PubMed ID: 30567591 |
| |
| 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 |
| |
| Harding SM, Coackley C, Bristow RG, ATM-dependent phosphorylation of 53BP1 in response to genomic stress in oxic and hypoxic cells Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology99:307-12 2011 |
| PubMed ID: 21680038 |
| |
| Wilson PF, Nagasawa H, Warner CL, Fitzek MM, Little JB, Bedford JS, Radiation Sensitivity of Primary Fibroblasts from Hereditary Retinoblastoma Family Members and Some Apparently Normal Controls: Colony Formation Ability during Continuous Low-Dose-Rate Gamma Irradiation Radiation research169:483-94 2008 |
| PubMed ID: 18439048 |
| |
| Yan J, Yang XP, Kim YS, Jetten AM, RAP80 responds to DNA damage induced by both ionizing radiation and UV irradiation and is phosphorylated at Ser 205 Cancer research68:4269-76 2008 |
| PubMed ID: 18519686 |
| |
| Supiot S, Zhao H, Wiman K, Hill RP, Bristow RG, PRIMA-1(met) radiosensitizes prostate cancer cells independent of their MTp53-status Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology86:407-11 2007 |
| PubMed ID: 18237796 |
| |
| Dellaire G, Ching RW, Ahmed K, Jalali F, Tse KC, Bristow RG, Bazett-Jones DP, Promyelocytic leukemia nuclear bodies behave as DNA damage sensors whose response to DNA double-strand breaks is regulated by NBS1 and the kinases ATM, Chk2, and ATR The Journal of cell biology175:55-66 2006 |
| PubMed ID: 17030982 |
| |
| Al Rashid ST, Dellaire G, Cuddihy A, Jalali F, Vaid M, Coackley C, Folkard M, Xu Y, Chen BP, Chen DJ, Lilge L, Prise KM, Bazett Jones DP, Bristow RG, Evidence for the direct binding of phosphorylated p53 to sites of DNA breaks in vivo Cancer research65:10810-21 2005 |
| PubMed ID: 16322227 |
| |
| Geigl JB, Langer S, Barwisch S, Pfleghaar K, Lederer G, Speicher MR, Analysis of gene expression patterns and chromosomal changes associated with aging. Cancer Res64(23):8550-7 2004 |
| PubMed ID: 15574761 |
| |
| Rapic-Otrin V, Navazza V, Nardo T, Botta E, McLenigan M, Bisi DC, Levine AS, Stefanini M, True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product. Hum Mol Genet12(13):1507-22 2003 |
| PubMed ID: 12812979 |
| |
| Rapic-Otrin V, McLenigan MP, Bisi DC, Gonzalez M, Levine AS, Sequential binding of UV DNA damage binding factor and degradation of the p48 subunit as early events after UV irradiation. Nucleic Acids Res30(11):2588-98 2002 |
| PubMed ID: 12034848 |
| |
| Cappelli E, Hazra T, Hill JW, Slupphaug G, Bogliolo M, Frosina G, Rates of base excision repair are not solely dependent on levels of initiating enzymes. Carcinogenesis22(3):387-93 2001 |
| PubMed ID: 11238177 |
| |
| Cappelli E, Degan P, Frosina G, Comparative repair of the endogenous lesions 8-oxo-7, 8-dihydroguanine (8-oxoG), uracil and abasic site by mammalian cell extracts: 8-oxoG is poorly repaired by human cell extracts. Carcinogenesis21:1135-41 2000 |
| PubMed ID: 10837001 |
| |
| 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 |
| |
| Borsi L, Balza E, Gaggero B, Allemanni G, Zardi L, The alternative splicing pattern of the tenascin-C pre-mRNA is controlled by the extracellular pH. J Biol Chem270:6243-5 1995 |
| PubMed ID: 7534307 |
| |
| Markello TC, Guo J, Gahl WA, High-performance liquid chromatography of lipids for the identification of human metabolic disease. Anal Biochem198:368-74 1991 |
| PubMed ID: 1799224 |
| |
| 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 |
| |
| Burns MA, Tomkins DJ, Hypersensitivity to mitomycin C cell-killing in Roberts syndrome fibroblasts with, but not without, the heterochromatin abnormality. Mutat Res216:243-9 1989 |
| PubMed ID: 2507910 |
| |
| 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 |
| |
| Nagasawa H, Little JB, Radiosensitivities of ten apparently normal human diploid fibroblast strains to cell killing, G2-phase chromosomal aberrations, and cell cycle delay. Cancer Res48:4535-8 1988 |
| PubMed ID: 3396006 |
| |
| 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 |
| |
| Wilson PD, Firestone RA, Lenard J, The role of lysosomal enzymes in killing of mammalian cells by the lysosomotropic detergent N-dodecylimidazole. J Cell Biol104:1223-9 1987 |
| PubMed ID: 3571330 |
| |
| Nove J, Little JB, Mayer PJ, Troilo P, Nichols WW, Hypersensitivity of cells from a new chromosomal-breakage syndrome to DNA-damaging agents. Mutat Res163:255-62 1986 |
| PubMed ID: 3785261 |
| Passage Frozen |
5 |
| 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 |
- |
|