NA05756
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 |
50 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from Fibroblast
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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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Clinical summary/Case history
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ISCN
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46,XY[20]
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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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| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Remarks |
Skin biopsy (inguinal) |
| Panagaki T, Pecze L, Randi EB, Nieminen AI, Szabo C, Role of the cystathionine ß-synthase / H Redox biology55:102416 2022 |
| PubMed ID: 35921774 |
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| Panagaki T, Randi EB, Szabo C, Role of 3-Mercaptopyruvate Sulfurtransferase in the Regulation of Proliferation and Cellular Bioenergetics in Human Down Syndrome Fibroblasts Biomolecules10:102416 2020 |
| PubMed ID: 32340322 |
| |
| Xu X, Pradhan M, Xu M, Cheng YS, Beers J, Linask KL, Lin Y, Zheng W, Zou J, Four induced pluripotent stem cell lines (TRNDi021-C, TRNDi023-D, TRNDi024-D and TRNDi025-A) generated from fibroblasts of four healthy individuals Stem cell research49:102011 2019 |
| PubMed ID: 33038742 |
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| Welford RWD1, Mühlemann A1, Garzotti M1, Rickert V2, Groenen PMA1, Morand O1, Üçeyler N2, Probst MR1., Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types Human Molecular Genetics49:102011 2018 |
| PubMed ID: 29982630 |
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| Mukherjee-Clavin B, Mi R, Kern B, Choi IY, Lim H, Oh Y, Lannon B, Kim KJ, Bell S, Hur JK, Hwang W, Che YH, Habib O, Baloh RH, Eggan K, Brandacher G, Hoke A, Studer L, Kim YJ, Lee G, Comparison of three congruent patient-specific cell types for the modelling of a human genetic Schwann-cell disorder Nature biomedical engineering3:571-582 2017 |
| PubMed ID: 30962586 |
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| 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 |
| |
| Longo N, Wang Y, Smith SA, Langley SD, DiMeglio LA, Giannella-Neto D, Genotype-phenotype correlation in inherited severe insulin resistance. Hum Mol Genet11(12):1465-75 2002 |
| PubMed ID: 12023989 |
| |
| Sacksteder KA, Biery BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT, Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. Am J Hum Genet66(6):1736-43 2000 |
| PubMed ID: 10775527 |
| |
| Geisbrecht BV, Zhang D, Schulz H, Gould SJ, Characterization of PECI, a novel monofunctional Delta(3), Delta(2)-enoyl-CoA isomerase of mammalian peroxisomes. J Biol Chem274:21797-803 1999 |
| PubMed ID: 10419495 |
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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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| South ST, Gould SJ, Peroxisome synthesis in the absence of preexisting peroxisomes. J Cell Biol144(2):255-66 1999 |
| PubMed ID: 9922452 |
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| Kawakami T, Ihn H, Xu W, Smith E, LeRoy C, Trojanowska M, Increased expression of TGF-beta receptors by scleroderma fibroblasts: evidence for contribution of autocrine TGF-beta signaling to scleroderma phenotype. J Invest Dermatol110:47-51 1998 |
| PubMed ID: 9424086 |
| |
| Ihn H, LeRoy EC, Trojanowska M, Oncostatin M stimulates transcription of the human alpha2(I) collagen gene via the Sp1/Sp3-binding site. J Biol Chem272:24666-72 1997 |
| PubMed ID: 9305936 |
| |
| Valenzano KJ, Kallay LM, Lobel P, An assay to detect glycoproteins that contain mannose 6-phosphate. Anal Biochem209:156-62 1993 |
| PubMed ID: 8465950 |
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| Buckley-Sturrock A, Woodward SC, Senior RM, Griffin GL, Klagsbrun M, Davidson JM, Differential stimulation of collagenase and chemotactic activity in fibroblasts derived from rat wound repair tissue and human skin by growth factors. J Cell Physiol138:70-8 1989 |
| PubMed ID: 2536037 |
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| Gramzinski RA, Broze GJ Jr, Carson SD, Human fibroblast tissue factor is inhibited by lipoprotein-associated coagulation inhibitor and placental anticoagulant protein but not by apolipoprotein A-II. Blood73:983-9 1989 |
| PubMed ID: 2522014 |
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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 |
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| Sephel GC, Sturrock A, Giro MG, Davidson JM, Increased elastin production by progeria skin fibroblasts is controlled by the steady-state levels of elastin mRNA. J Invest Dermatol90:643-7 1988 |
| PubMed ID: 3361140 |
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| Sephel GC, Davidson JM, Elastin production in human skin fibroblast cultures and its decline with age. J Invest Dermatol86:279-85 1986 |
| PubMed ID: 3745952 |
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