GM03651
Fibroblast from Skin, Arm
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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Arm
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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, Arm
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Race
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White
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Country of Origin
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USA
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Family Member
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1
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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 |
6.12 |
| Passage Frozen |
12 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Remarks |
Skin biopsy (left forearm); 46,XX |
| James R, Faller KME, Groen EJN, Wirth B, Gillingwater TH, Altered mitochondrial function in fibroblast cell lines derived from disease carriers of spinal muscular atrophy Communications medicine4:86 2023 |
| PubMed ID: 38750213 |
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| Parivesh A, Délot E, Reyes A, Ryan J, Bhattacharya S, Harley V, Vilain E, Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development Biology of sex differences15:24 2023 |
| PubMed ID: 38520033 |
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| Rylaarsdam L, Rakotomamonjy J, Pope E, Guemez-Gamboa A, iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity Nature communications15:827 2022 |
| PubMed ID: 38280846 |
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| Eltahir MK, Nakamori M, Hattori S, Kimura T, Mochizuki H, Nagano S, Pharmacotherapy alleviates pathological changes in human direct reprogrammed neuronal cell model of myotonic dystrophy type 1 PloS one17:e0269683 2021 |
| PubMed ID: 35776705 |
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| Krzyszton-Russjan J, Chudziak J, Bednarek M, Anuszewska EL, Development of New PCR Assay with SYBR Green I for Detection of Diagnostics (Basel, Switzerland)11:e0269683 2021 |
| PubMed ID: 34068904 |
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| Cheung VC, Peng CY, Marinic M, Sakabe NJ, Aneas I, Lynch VJ, Ober C, Nobrega MA, Kessler JA, Pluripotent stem cell-derived endometrial stromal fibroblasts in a cyclic, hormone-responsive, coculture model of human decidua Cell reports35:109138 2020 |
| PubMed ID: 34010658 |
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| Bersini S, Schulte R, Huang L, Tsai H, Hetzer MW, Direct reprogramming of human smooth muscle and vascular endothelial cells reveals defects associated with aging and Hutchinson-Gilford progeria syndrome eLife9:109138 2019 |
| PubMed ID: 32896271 |
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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 Biology19:109138 2018 |
| PubMed ID: 30567591 |
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| Readhead B, Hartley BJ, Eastwood BJ, Collier DA, Evans D, Farias R, He C, Hoffman G, Sklar P, Dudley JT, Schadt EE, Savic R, Brennand KJ, Expression-based drug screening of neural progenitor cells from individuals with schizophrenia Nature communications9:4412 2018 |
| PubMed ID: 30356048 |
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| Sarkar A, Mei A, Paquola ACM, Stern S, Bardy C, Klug JR, Kim S, Neshat N, Kim HJ, Ku M, Shokhirev MN, Adamowicz DH, Marchetto MC, Jappelli R, Erwin JA, Padmanabhan K, Shtrahman M, Jin X, Gage FH, Efficient Generation of CA3 Neurons from Human Pluripotent Stem Cells Enables Modeling of Hippocampal Connectivity In Vitro Cell stem cell22:684-697.e9 2017 |
| PubMed ID: 29727680 |
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| 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 |
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| Greco M, Villani G, Mazzucchelli F, Bresolin N, Papa S, Attardi G, Marked aging-related decline in efficiency of oxidative phosphorylation in human skin fibroblasts The FASEB journal : official publication of the Federation of American Societies for Experimental Biology17:1706-8 2003 |
| PubMed ID: 12958183 |
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| Zhang J, Asin-Cayuela J, Fish J, Michikawa Y, Bonafe M, Olivieri F, Passarino G, De Benedictis G, Franceschi C, Attardi G, Strikingly higher frequency in centenarians and twins of mtDNA mutation causing remodeling of replication origin in leukocytes. Proc Natl Acad Sci U S A100(3):1116-21 2003 |
| PubMed ID: 12538859 |
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| Emmert S, Slor H, Busch DB, Batko S, Albert RB, Coleman D, Khan SG, Abu-Libdeh B, DiGiovanna JJ, Cunningham BB, Lee MM, Crollick J, Inui H, Ueda T, Hedayati M, Grossman L, Shahlavi T, Cleaver JE, Kraemer KH, Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group g patients. J Invest Dermatol118(6):972-82 2002 |
| PubMed ID: 12060391 |
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| Hofhaus G, Johns DR, Hurko O, Attardi G, Chomyn A, Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy. J Biol Chem271:13155-61 1996 |
| PubMed ID: 8662757 |
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| Moriwaki S, Stefanini M, Lehmann AR, Hoeijmakers JH, Robbins JH, Rapin I, Botta E, Tanganelli B, Vermeulen W, Broughton BC, Kraemer KH, DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells. J Invest Dermatol107(4):647-53 1996 |
| PubMed ID: 8823375 |
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| Parshad RP, Sanford KK, Price FM, Melnick LK, Nee LE, Schapiro MB, Tarone RE, Robbins JH, Fluorescent light-induced chromatid breaks distinguish Alzheimer disease cells from normal cells in tissue culture. Proc Natl Acad Sci U S A93:5146-50 1996 |
| PubMed ID: 8643543 |
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| Shenkar R, Navidi W, Tavare S, Dang MH, Chomyn A, Attardi G, Cortopassi G, Arnheim N, The mutation rate of the human mtDNA deletion mtDNA4977 [see comments] Am J Hum Genet59:772-80 1996 |
| PubMed ID: 8808591 |
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| Etcheberrigaray E, Gibson GE, Alkon DL, Molecular mechanisms of memory and the pathophysiology of Alzheimer's disease. Ann N Y Acad Sci747:245-55 1994 |
| PubMed ID: 7847674 |
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| Ito E, Oka K, Etcheberrigaray R, Nelson TJ, McPhie DL, Tofel-Grehl B, Gibson GE, Alkon DL, Internal Ca2+ mobilization is altered in fibroblasts from patients with Alzheimer disease. Proc Natl Acad Sci U S A91:534-8 1994 |
| PubMed ID: 8290560 |
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| Etcheberrigaray R, Ito E, Oka K, Tofel-Grehl B, Gibson GE, Alkon DL, Potassium channel dysfunction in fibroblasts identifies patients with Alzheimer disease. Proc Natl Acad Sci U S A90:8209-13 1993 |
| PubMed ID: 8367484 |
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| Huang HM, Toral-Barza L, Thaler H, Tofel-Grehl B, Gibson GE, Inositol phosphates and intracellular calcium after bradykinin stimulation in fibroblasts from young, normal aged and Alzheimer donors. Neurobiol Aging12:469-73 1991 |
| PubMed ID: 1770982 |
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| 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 |
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| Peterson C, Ratan RR, Shelanski ML, Goldman JE, Altered response of fibroblasts from aged and Alzheimer donors to drugs that elevate cytosolic free calcium. Neurobiol Aging9:261-6 1988 |
| PubMed ID: 3398992 |
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| Butler JD, Key JD, Hughes BF, Tietze F, Raiford DS, Reed GF, Brannon PM, Spielberg SP, Schulman JD, Glutathione metabolism in normal and cystinotic fibroblasts. Exp Cell Res172:158-67 1987 |
| PubMed ID: 2888673 |
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| Goldman D, Goldin LR, Rathnagiri P, O'Brien SJ, Egeland JA, Merril CR, Twenty-seven protein polymorphisms by two-dimensional electrophoresis of serum, erythrocytes, and fibroblasts in two pedigrees. Am J Hum Genet37:898-911 1985 |
| PubMed ID: 3863481 |
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| Woodhead, Avril D., Blackett, Anthony D., and Hollaender, Alexander (editors), Molecular Biology of Aging Am J Hum Genet37:pp 315-344 1985 |
| PubMed ID: 3863481 |
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| Schmutz SM, Simpson NE, Suggested assignment of peptidase S (PEPS) to 4p11-4q12 by exclusion using gene dosage, accounting for variability in fibroblasts. Hum Genet64:134-8 1983 |
| PubMed ID: 6350155 |
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| Tarone RE, Scudiero DA, Robbins JH, Statistical methods for in vitro cell survival assays. Mutat Res111:79-96 1983 |
| PubMed ID: 6621576 |
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| Scudiero DA, Meyer SA, Clatterbuck BE, Tarone RE, Robbins JH, Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in fibroblasts from patients with Huntington disease, familial dysautonomia, and other primary neuronal degenerations. Proc Natl Acad Sci U S A78:6451-5 1981 |
| PubMed ID: 6458814 |
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| Scudiero DA, Meyer SA, Clatterbuck BE, Tarone RE, Robbins JH, Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in fibroblasts from patients with Huntington disease, familial dysautonomia, and other primary neuronal degenerations. Proc Natl Acad Sci U S A78:6451-5 1981 |
| PubMed ID: 29691375 |
| Passage Frozen |
12 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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