GM01651
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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Family Member
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2
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Relation to Proband
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sister
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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 |
5.75 |
| Passage Frozen |
15 |
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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 |
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| Remarks |
Skin biopsy (left forearm); daughter of GM01650A and GM01653; granddaughter of GM01680 and GM01681; sister of GM01652B |
| 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 2023 |
| PubMed ID: 38430517 |
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| Vehns E, Arnold R, Djabali K, Impact of MnTBAP and Baricitinib Treatment on Hutchinson-Gilford Progeria Fibroblasts Pharmaceuticals (Basel, Switzerland)15:113883 2022 |
| PubMed ID: 36015093 |
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| Frye RE, Lionnard L, Singh I, Karim MA, Chajra H, Frechet M, Kissa K, Racine V, Ammanamanchi A, McCarty PJ, Delhey L, Tippett M, Rose S, Aouacheria A, Mitochondrial morphology is associated with respiratory chain uncoupling in autism spectrum disorder Translational psychiatry11:527 2021 |
| PubMed ID: 34645790 |
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| Gomez-Sintes R, Xin Q, Jimenez-Loygorri JI, McCabe M, Diaz A, Garner TP, Cotto-Rios XM, Wu Y, Dong S, Reynolds CA, Patel B, de la Villa P, Macian F, Boya P, Gavathiotis E, Cuervo AM, Targeting retinoic acid receptor alpha-corepressor interaction activates chaperone-mediated autophagy and protects against retinal degeneration Nature communications13:4220 2021 |
| PubMed ID: 35864098 |
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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 2021 |
| PubMed ID: 35144859 |
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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 advances6:221-229 2020 |
| PubMed ID: 33268356 |
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| Lee Y, Shivashankar GV, Analysis of transcriptional modules during human fibroblast ageing Scientific reports10:19086 2020 |
| PubMed ID: 33154459 |
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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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| Perez-Jimenez E, Viana R, Muñoz-Ballester C, Vendrell-Tornero C, Moll-Diaz R, Garcia-Gimeno MA, Sanz P, Endocytosis of the glutamate transporter 1 is regulated by laforin and malin: Implications in Lafora disease Glia153:106524 2020 |
| PubMed ID: 33368637 |
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| Röhrl JM, Arnold R, Djabali K, Nuclear Pore Complexes Cluster in Dysmorphic Nuclei of Normal and Progeria Cells during Replicative Senescence Cells10:106524 2020 |
| PubMed ID: 33466669 |
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| Davids M, Menezes M, Guo Y, McLean SD, Hakonarson H, Collins F, Worgan L, Billington CJ, Maric I, Littlejohn RO, Onyekweli T, Members Of The Udn T, Adams DR, Tifft CJ, Gahl WA, Wolfe LA, Christodoulou J, Malicdan MCV, Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency Molecular genetics and metabolism10:106524 2019 |
| PubMed ID: 32165008 |
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| Liu C, Arnold R, Henriques G, Djabali K, Inhibition of JAK-STAT Signaling with Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells Cells8:106524 2019 |
| PubMed ID: 31635416 |
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| Park D1, Lee JY1, Cho HK2, Hong WJ2, Kim J3, Seo H3, Choi I1, Lee Y1,4, Kim J5,6, Min SJ4, Yoon SH7, Hwang JS7, Cho KJ8, Kim JW, Cell-Penetrating Peptide-Patchy Deformable Polymeric Nanovehicles with Enhanced Cellular Uptake and Transdermal Delivery Biomacromolecules
19:2682-2690 2018 |
| PubMed ID: 29847726 |
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| 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 |
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| Rivera-Torres J, Acín-Perez R, Cabezas-Sánchez P, Osorio FG, Gonzalez-Gómez C, Megias D, Cámara C, López-Otín C, Enríquez JA, Luque-García JL, Andrés V., Identification of mitochondrial dysfunction in Hutchinson-Gilford progeria syndrome through use of stable isotope labeling with amino acids in cell culture. J Proteomics.91C:466-477 2013 |
| PubMed ID: 23969228 |
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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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| 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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| Sanford KK, Parshad R, Price FM, Tarone RE, Schapiro MB, X-ray-induced chromatid damage in cells from Down syndrome and Alzheimer disease patients in relation to DNA repair and cancer proneness. Cancer Genet Cytogenet70:25-30 1993 |
| PubMed ID: 8221609 |
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| Piepkorn M, Hovingh P, Linker A, Evidence for independent metabolism and cell surface localization of cell surface localization of cellular proteoglycans and glycosaminoglycan free chains. J Cell Physiol135:189-99 1988 |
| PubMed ID: 3131350 |
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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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| Guernsey DL, Koebbe M, Thomas JE, Myerly TK, Zmolek D, An altered response in the induction of cell membrane (Na + K)ATPase by thyroid hormone is characteristic of senescence in cultured human fibroblasts. Mech Ageing Dev33:283-93 1986 |
| PubMed ID: 3012221 |
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| Boorstein R, Campisi J, Pardee AB, The study of DNA-repair defects using [125I]iododeoxycytidine incorporation as an assay for the growth of herpes simplex virus. Mutat Res112:85-95 1983 |
| PubMed ID: 6300669 |
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| Campisi J, Hafner J, Boorstein R, Pardee AB, Hereditary orotic aciduria, Lesch-Nyhan syndrome, and xeroderma pigmentosum probed by herpes simplex virus: 125I-iododeoxycytidine incorporation as an assay for viral growth. J Cell Physiol114:21-8 1983 |
| PubMed ID: 6826658 |
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| Clemmons DR, Shaw DS, Variables controlling somatomedin production by cultured human fibroblasts. J Cell Physiol115:137-42 1983 |
| PubMed ID: 6601662 |
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| Case JT, Wallace DC, Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts. Somatic Cell Genet7:103-8 1981 |
| PubMed ID: 6261411 |
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| Kurz JB, Perkins JP, Cystic fibrosis fibroblasts respond normally to isoproterenol. Pediatr Res15:1328-33 1981 |
| PubMed ID: 6170925 |
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| Kurz JB, Perkins JP, Buchwald M, Killing of fibroblasts by dexamethasone or dibutyryl adenosine 3',5'- monophosphate is not a valid test for cystic fibrosis. Science206:1317-9 1979 |
| PubMed ID: 229552 |
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| Wijcik L, Buchwald M, Riordan JR, Induction of alkaline phosphatase in cultured human fibroblasts. Comparison of normal cells and those from patients with cystic fibrosis. Biochim Biophys Acta585:374-82 1979 |
| PubMed ID: 486538 |
| Passage Frozen |
15 |
| Split Ratio |
1:3 |
| 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 |
| Substrate |
Gelatin |
| Supplement |
- |
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