GM00969
Fibroblast from Skin, Unspecified
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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Unspecified
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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, Unspecified
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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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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 |
6.1 |
| Passage Frozen |
13 |
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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; 46,XX; 6% of cells show random chromosome loss and 2% showed random chromosomal aberrations. |
| 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 genetics: 2025 |
| PubMed ID: 39533854 |
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| Bobo TA, Robinson M, Tofade C, Sokolski-Papkov M, Nichols P, Vorobiov S, Fu H, AAV gene replacement therapy for treating MPS IIIC: Facilitating bystander effects via EV-mRNA cargo Journal of extracellular vesicles13:e12464 2024 |
| PubMed ID: 38961538 |
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| De Serres-Bérard T, Jauvin D, Puymirat J, Chahine M, Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and age-matched controls (CBRCULi010-A and CBRCULi011-A) Stem cell research72:103234 2023 |
| PubMed ID: 37871474 |
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| Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara EF, Lange J, Lehman A, Zerfas PM, Murphy JL, Acosta MT, Wang C, Alderman E, Undiagnosed Diseases Network E, Reichert S, Thurm A, Adams DR, Introne WJ, Gorski SM, Boerkoel CF, Gahl WA, Tifft CJ, Malicdan MCV, Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment NPJ genomic medicine8:4 2023 |
| PubMed ID: 36765070 |
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| 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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| Scotto Rosato A, Krogsaeter EK, Jaslan D, Abrahamian C, Montefusco S, Soldati C, Spix B, Pizzo MT, Grieco G, Böck J, Wyatt A, Wünkhaus D, Passon M, Stieglitz M, Keller M, Hermey G, Markmann S, Gruber-Schoffnegger D, Cotman S, Johannes L, Crusius D, Boehm U, Wahl-Schott C, Biel M, Bracher F, De Leonibus E, Polishchuk E, Medina DL, Paquet D, Grimm C, TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease EMBO molecular medicine14:e15377 2022 |
| PubMed ID: 35929194 |
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| Bodnar B, Zhang Y, Liu J, Lin Y, Wang P, Wei Z, Saribas S, Zhu Y, Li F, Wang X, Yang W, Li Q, Ho WZ, Hu W, Novel Scalable and Simplified System to Generate Microglia-Containing Cerebral Organoids From Human Induced Pluripotent Stem Cells Frontiers in cellular neuroscience15:682272 2021 |
| PubMed ID: 34290591 |
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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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| Fafián-Labora JA, Rodríguez-Navarro JA, O'Loghlen A, Small Extracellular Vesicles Have GST Activity and Ameliorate Senescence-Related Tissue Damage Cell metabolism20:e13426 2020 |
| PubMed ID: 32574561 |
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| Marentette JO, Anderson CC, Prutton KM, Jennings EQ, Rauniyar AK, Galligan JJ, Roede JR, Trisomy 21 impairs PGE2 production in dermal fibroblasts Prostaglandins & other lipid mediators153:106524 2020 |
| PubMed ID: 33418267 |
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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 Micromachines11:106524 2020 |
| PubMed ID: 32847135 |
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| Pascua-Maestro R, Corraliza-Gomez M, Fadrique-Rojo C, Ledesma MD, Schuchman EH, Sanchez D, Ganfornina MD, Apolipoprotein D-mediated preservation of lysosomal function promotes cell survival and delays motor impairment in Niemann-Pick type A disease Neurobiology of disease11:105046 2020 |
| PubMed ID: 32798728 |
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| Somuncu B, Keskin S, Antmen FM, Saglican Y, Ekmekcioglu A, Ertuzun T, Tuna MB, Obek C, Wilson DM, Ince U, Kural AR, Muftuoglu M, Non-muscle invasive bladder cancer tissues have increased base excision repair capacity Scientific reports10:16371 2020 |
| PubMed ID: 33004944 |
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| Thulasi Raman SN, Latreille E, Gao J, Zhang W, Wu J, Russell MS, Walrond L, Cyr T, Lavoie JR, Safronetz D, Cao J, Sauve S, Farnsworth A, Chen W, Shi PY, Wang Y, Wang L, Rosu-Myles M, Li X, Dysregulation of Ephrin Receptor and PPAR signaling pathways in Neural Progenitor Cells Infected by Zika Virus Emerging microbes & infections10:1-50 2020 |
| PubMed ID: 32873194 |
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| Hwang S, Williams JF, Kneissig M, Lioudyno M, Rivera I, Helguera P, Busciglio J, Storchova Z, King MC, Torres EM, Suppressing Aneuploidy-Associated Phenotypes Improves the Fitness of Trisomy 21 Cells Cell reports29:2473-2488.e5 2019 |
| PubMed ID: 31747614 |
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| Ahmed AA1, Smoczer C1, Pace B1, Patterson D2,3, Cress Cabelof D1., Loss of DNA polymerase β induces cellular senescence Environmental and Molecular Mutagenesis
29:2473-2488.e5 2018 |
| PubMed ID: 29968395 |
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| Zhang X, Chen W, Gao Q, Yang J, Yan X, Zhao H, Su L, Yang M, Gao C, Yao Y, Inoki K, Li D, Shao R, Wang S, Sahoo N, Kudo F, Eguchi T, Ruan B, Xu H, Rapamycin directly activates lysosomal mucolipin TRP channels independent of mTOR PLoS biology17:e3000252 2018 |
| PubMed ID: 31112550 |
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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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| Zhong XZ1, Zou Y1, Sun X1,2, Dong G1, Cao Q1, Pandey A3, Rainey JK3,4, Zhu X2, Dong XP5., Inhibition of Transient Receptor Potential Channel Mucolipin-1 (TRPML1) by Lysosomal Adenosine Involved in Severe Combined Immunodeficiency Diseases. J Biol Chem.292(8):3445-3455 2017 |
| PubMed ID: 28087698 |
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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 |
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| Merla G, Howald C, Henrichsen CN, Lyle R, Wyss C, Zabot MT, Antonarakis SE, Reymond A, Submicroscopic deletion in patients with williams-beuren syndrome influences expression levels of the nonhemizygous flanking genes American journal of human genetics79:332-41 2006 |
| PubMed ID: 16826523 |
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| Tuo J, Jaruga P, Rodriguez H, Bohr VA, Dizdaroglu M, Primary fibroblasts of Cockayne syndrome patients are defective in cellular
repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress. FASEB J17(6):668-74 2003 |
| PubMed ID: 12665480 |
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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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| Davis K, Tomkins DJ, Rainbow AJ, Roberts syndrome fibroblasts showing cisplatin hypersensitivity have normal host cell reactivation of cisplatin-treated adenovirus and normal capacity of cisplatin-treated cells for adenovirus DNA synthesis. Somat Cell Mol Genet22:393-402 1996 |
| PubMed ID: 9039848 |
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| Sanford KK, Parshad R, Price FM, Tarone RE, Benedict WF, Cytogenetic responses to G2 phase x-irradiation of cells from retinoblastoma patients. Cancer Genet Cytogenet88:43-8 1996 |
| PubMed ID: 8630978 |
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| Ahern-Rindell AJ, Murnane RD, Prieur DJ, Interspecific genetic complementation analysis of human and sheep fibroblasts with beta-galactosidase deficiency. Somat Cell Mol Genet15:525-33 1989 |
| PubMed ID: 2512653 |
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| 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 |
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| Bennett CB, Rainbow AJ, Delayed expression of enhanced reactivation and decreased mutagenesis of UV-irradiated adenovirus in UV-irradiated ataxia telangiectasia fibroblasts. Mutagenesis3:389-95 1988 |
| PubMed ID: 3070272 |
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| Bennett CB, Rainbow AJ, Enhanced reactivation and mutagenesis of UV-irradiated adenovirus in normal human fibroblasts. Mutagenesis3:157-64 1988 |
| PubMed ID: 3288839 |
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| Hutchins JT, Reading CL, Giavazzi R, Hoaglund J, Jessup JM, Distribution of mono-, di, and tri-O-acetylated sialic acids in normal and neoplastic colon. Cancer Res48:483-9 1988 |
| PubMed ID: 3335016 |
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| Bols NC, Mosser DD, Boliska SA, Transfer of purine metabolites between cells through the medium and via cell contacts in cocultures of HGPRT+ and HGPRT- cells. Exp Cell Res173:206-17 1987 |
| PubMed ID: 3678380 |
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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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| Penner JD, Prieur DJ, A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak-Higashi syndrome. Am J Med Genet28:445-54 1987 |
| PubMed ID: 3425619 |
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| Penner JD, Prieur DJ, Interspecific genetic complementation analysis with fibroblasts from humans and four species of animals with Chediak-Higashi syndrome. Am J Med Genet28:455-70 1987 |
| PubMed ID: 3322007 |
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| Shaham M, Adler B, Ganguly S, Chaganti RS, Transfection of normal human and Chinese hamster DNA corrects diepoxybutane-induced chromosomal hypersensitivity of Fanconi anemia fibroblasts. Proc Natl Acad Sci U S A84:5853-7 1987 |
| PubMed ID: 3475705 |
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| Straus DS, Mohandas T, Growth suppression of hybrids between transformed cells and normal fibroblasts in serum-free medium: correlation with retention of human chromosomes. Somat Cell Mol Genet13:587-96 1987 |
| PubMed ID: 3478814 |
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| Jeeves WP, Rainbow AJ, An aberration in gamma-ray-enhanced reactivation of irradiated adenovirus in ataxia telangiectasia fibroblasts. Carcinogenesis7:381-7 1986 |
| PubMed ID: 3948323 |
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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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| Shireman RB, Williams D, Remsen JF, Uptake of [3H]vitamin D3 from low and high density lipoproteins by cultured human fibroblasts. Proc Soc Exp Biol Med181:392-8 1986 |
| PubMed ID: 3003757 |
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| Leone A, Pavlakis GN, Hamer DH, Menkes' disease: abnormal metallothionein gene regulation in response to copper. Cell40:301-9 1985 |
| PubMed ID: 3967294 |
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| Saito M, Rosenberg A, The fate of glucosylceramide (glucocerebroside) in genetically impaired (lysosomal beta-glucosidase deficient) Gaucher disease diploid human fibroblasts. J Biol Chem260:2295-300 1985 |
| PubMed ID: 3919000 |
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| Packman S, Caswell N, Gonzalez-Rios MC, Kadlecek T, Cann H, Rassin D, McKay C, Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency. Am J Hum Genet36:80-92 1984 |
| PubMed ID: 6141728 |
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| Shireman RB, Coffey MT, Relationships between composition and cellular uptake of lipoproteins from normal and hyperlipemic swine. J Nutr114:2373-82 1984 |
| PubMed ID: 6502280 |
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| Shireman RB, Mace L, Davidson S, Effects of dichloroacetate and glyoxylate on low density lipoprotein uptake and on growth of cultured fibroblasts. Proc Soc Exp Biol Med175:420-3 1984 |
| PubMed ID: 6324220 |
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| Daddona PE, Mitchell BS, Meuwissen HJ, Davidson BL, Wilson JM, Koller CA, Adenosine deaminase deficiency with normal immune function. An acidic enzyme mutation. J Clin Invest72:483-92 1983 |
| PubMed ID: 6603477 |
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| Murray PK, Habbersett MC, Meurer RD, Trypanosoma cruzi: efficacy of the 2-substituted, 5-nitroimidazoles, MK- 436 and L634,549, in tissue culture and mice. Am J Trop Med Hyg32:1242-50 1983 |
| PubMed ID: 6418014 |
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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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| Shireman RB, Remsen JF, Imipramine associations with plasma components and its uptake by cultured human cells. Life Sci33:2165-71 1983 |
| PubMed ID: 6645795 |
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| Van Keuren, Proteins affected by chromosome 21 and ageing in vitro (from Gene Expression in Normal and Transformed Cells, Plenum Pub Corp; Celis & Bravo, Eds) "Gene Exp in Norm & Trans Cells"1983,pp349:2165-71 1983 |
| PubMed ID: 6645795 |
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| Gitelman, Regional mapping of the loci for hexokinase-1(HK1) and glutamic oxaloacetic transaminase-1(GOT1) on chromosome 10 by gene dosage studies. Cytogenet Cell Genet32:281 (1982):2165-71 1982 |
| PubMed ID: 6645795 |
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| Rainbow AJ, Howes M, A deficiency in the repair of UV and gamma-ray damaged DNA in fibroblasts from Cockayne's syndrome. Mutat Res93:235-47 1982 |
| PubMed ID: 7062933 |
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| Barrett SF, Tarone RE, Moshell AN, Ganges MB, Robbins JH, The post-UV colony-forming ability of normal fibroblast strains and of the xeroderma pigmentosum group G strain. J Invest Dermatol76:59-62 1981 |
| PubMed ID: 7462668 |
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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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| Daddona PE, Frohman MA, Kelley WN, Human adenosine deaminase and its binding protein in normal and adenosine deaminase-deficient fibroblast cell strains. J Biol Chem255:5681-7 1980 |
| PubMed ID: 7380831 |
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| Tietze F, Butler JD, Elevated cystine levels in cultured skin fibroblasts from patients with I-cell disease. Pediatr Res13:1350-5 1979 |
| PubMed ID: 523195 |
| Passage Frozen |
13 |
| Split Ratio |
1:2 |
| 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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