GM03349

GM03349 Fibroblast from Skin, Unspecified

Description:

APPARENTLY HEALTHY INDIVIDUAL

Affected:

No

Sex:

Male

Age:

10 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Apparently Healthy Collection

Biopsy Source

Unspecified

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Unspecified

Race

Black/African American

Relation to Proband

proband

Confirmation

Karyotypic analysis and Case history

Species

Homo sapiens

Common Name

Human

Remarks

Skin biopsy; 46,XY

Characterizations

PDL at Freeze

5.56

Passage Frozen

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

Phenotypic Data

Remarks

Skin biopsy; 46,XY

Publications

Zheng F, Chen Z, Li J, Wu R, Zhang B, Nie G, Xie Z, Zhang H, A Highly Sensitive CRISPR-Empowered Surface Plasmon Resonance Sensor for Diagnosis of Inherited Diseases with Femtomolar-Level Real-Time Quantification Advanced science (Weinheim, Baden-Wurttemberg, Germany)9:e2105231 2022

PubMed ID: 35343100

Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021

PubMed ID: 35039224

Liu C, Arnold R, Henriques G, Djabali K, Inhibition of JAK-STAT Signaling with Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells Cells8:228-238 2019

PubMed ID: 31635416

Sanchez-Martin P, Lahuerta M, Viana R, Knecht E, Sanz P, Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease Biochimica et biophysica acta Molecular cell research1867:118613 2019

PubMed ID: 31758957

Cadoff EB1, Sheffer R2, Wientroub S3,4, Ovadia D3,4, Meiner V2, Schwarzbauer JE1., Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia Clinical Genetics1867:118613 2018

PubMed ID: 30051459

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 Biology19:118613 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

Mukherjee JJ, Kumar S, DNA synthesis inhibition in response to benzo[a]pyrene dihydrodiol epoxide is associated with attenuation of p(34)cdc2: Role of p53 Mutation research6:1745-1755 2013

PubMed ID: 23692869

Buchaklian AH, Helbling D, Ware SM, Dimmock DP, Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy Molecular genetics and metabolism6:1745-1755 2012

PubMed ID: 22622127

Vidal-Donet JM, Cárcel-Trullols J, Casanova B, Aguado C, Knecht E, Alterations in ROS Activity and Lysosomal pH Account for Distinct Patterns of Macroautophagy in LINCL and JNCL Fibroblasts PloS one8:e55526 2012

PubMed ID: 23408996

Marji J, O'Donoghue SI, McClintock D, Satagopam VP, Schneider R, Ratner D, Worman HJ, Gordon LB, Djabali K, Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition PloS one5:e11132 2010

PubMed ID: 20559568

Kulkarni A, Das KC, Differential roles of ATR and ATM in p53, Chk1, and histone H2AX phosphorylation in response to hyperoxia: ATR-dependent ATM activation American journal of physiology Lung cellular and molecular physiology294:L998-L1006 2008

PubMed ID: 18344416

Solaz-Fuster MC, Gimeno-Alcañiz JV, Ros S, Fernandez-Sanchez ME, Garcia-Fojeda B, Criado Garcia O, Vilchez D, Dominguez J, Garcia-Rocha M, Sanchez-Piris M, Aguado C, Knecht E, Serratosa J, Guinovart JJ, Sanz P, Rodriguez de Córdoba S, Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway Human molecular genetics17:667-78 2007

PubMed ID: 18029386

Innes CL, Heinloth AN, Flores KG, Sieber SO, Deming PB, Bushel PR, Kaufmann WK, Paules RS, ATM requirement in gene expression responses to ionizing radiation in human lymphoblasts and fibroblasts. Mol Cancer Res4(3):197-207 2006

PubMed ID: 16547157

Hoffelder DR, Luo L, Burke NA, Watkins SC, Gollin SM, Saunders WS, Resolution of anaphase bridges in cancer cells Chromosoma112:389-97 2004

PubMed ID: 15156327

Shackelford RE, Innes CL, Sieber SO, Heinloth AN, Leadon SA, Paules RS, The Ataxia telangiectasia gene product is required for oxidative stress-induced G1 and G2 checkpoint function in human fibroblasts. J Biol Chem276(24):21951-9 2001

PubMed ID: 11290740

Gisselsson D, Pettersson L, Hoglund M, Heidenblad M, Gorunova L, Wiegant J, Mertens F, Dal Cin P, Mitelman F, Mandahl N, Chromosomal breakage-fusion-bridge events cause genetic intratumor heterogeneity. Proc Natl Acad Sci U S A97:5357-62 2000

PubMed ID: 10805796

Ashburner BP, Shackelford RE, Baldwin AS Jr, Paules RS, Lack of involvement of ataxia telangiectasia mutated (ATM) in regulation of nuclear factor-kappaB (NF-kappaB) in human diploid fibroblasts. Cancer Res59(21):5456-60 1999

PubMed ID: 10554017

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

Calvo D, Dopazo J, Vega MA, The CD36, CLA-1 (CD36L1), and LIMPII (CD36L2) gene family: cellular distribution, chromosomal location, and genetic evolution. Genomics25:100-6 1995

PubMed ID: 7539776

Wilson R, Tocher DR, Sargent JR, Effects of exogenous monounsaturated fatty acids on fatty acid metabolism in cultured skin fibroblasts from adrenoleukodystrophy patients. J Neurol Sci109:207-14 1992

PubMed ID: 1634904

Stokes DG, Saitta B, Timpl R, Chu ML, Human alpha 3(VI) collagen gene. Characterization of exons coding for the amino-terminal globular domain and alternative splicing in normal and tumor cells. J Biol Chem266:8626-33 1991

PubMed ID: 2022673

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

Zhuang JP, Constantinou CD, Ganguly A, Prockop DJ, A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR. Am J Hum Genet48:1186-91 1991

PubMed ID: 2035536

Baldwin CT, Constantinou CD, Dumars KW, Prockop DJ, A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple helix. J Biol Chem264:3002-6 1989

PubMed ID: 2914942

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

Pack M, Constantinou CD, Kalia K, Nielsen KB, Prockop DJ, Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific. J Biol Chem264:19694-9 1989

PubMed ID: 2511192

Dombrowski KE, Prockop DJ, Cleavage of type I and type II procollagens by type I/II procollagen N- proteinase. Correlation of kinetic constants with the predicted conformations of procollagen substrates. J Biol Chem263:16545-52 1988

PubMed ID: 3053692

Fingerman E, Hemler ME, Regulation of proteins in the VLA cell substrate adhesion family: influence of cell growth conditions on VLA-1, VLA-2, and VLA-3 expression. Exp Cell Res177:132-42 1988

PubMed ID: 3292271

Vogel BE, Doelz R, Kadler KE, Hojima Y, Engel J, Prockop DJ, A substitution of cysteine for glycine 748 of the alpha 1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away. J Biol Chem263:19249-55 1988

PubMed ID: 3198624

Friedman SJ, Bokesch H, Skehan P, The regulation of sterol metabolism by cell interactions. Exp Cell Res172:463-73 1987

PubMed ID: 3653268

Goldman D, Giri PR, O'Brien SJ, A molecular phylogeny of the hominoid primates as indicated by two- dimensional protein electrophoresis. Proc Natl Acad Sci U S A84:3307-11 1987

PubMed ID: 3106965

Harper GS, Hascall VC, Yanagishita M, Gahl WA, Proteoglycan synthesis in normal and Lowe syndrome fibroblasts. J Biol Chem262:5637-43 1987

PubMed ID: 3571227

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

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

Hinman LM, Ksiezak-Reding H, Baker AC, Blass JP, Pigeon liver phosphoprotein phosphatase: an effective activator of pyruvate dehydrogenase in tissue homogenates. Arch Biochem Biophys246:381-90 1986

PubMed ID: 3008658

Lema MJ, Pagani ED, Shemin R, Julian FJ, Myosin isozymes in rabbit and human smooth muscles. Circ Res59:115-23 1986

PubMed ID: 3742741

Little LE, Mueller OT, Honey NK, Shows TB, Miller AL, Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III. J Biol Chem261:733-8 1986

PubMed ID: 3001079

Marcum JA, Conway EM, Youssoufian H, Rosenberg RD, Anticoagulantly active heparin-like molecules from cultured fibroblasts. Exp Cell Res166:253-8 1986

PubMed ID: 3743657

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

Renlund M, Tietze F, Gahl WA, Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. Science232:759-62 1986

PubMed ID: 3961501

Witte I, Juhl U, Butte W, DNA-damaging properties and cytotoxicity in human fibroblasts of tetrachlorohydroquinone, a pentachlorophenol metabolite. Mutat Res145:71-5 1985

PubMed ID: 3974605

Woodhead, Avril D., Blackett, Anthony D., and Hollaender, Alexander (editors), Molecular Biology of Aging Mutat Res145:pp 315-344 1985

PubMed ID: 3974605

Wooten MW, Rudick VL, Rudick MJ, Higgins ML, The effects of proteins secreted by fibroblasts from patients with cystic fibrosis on hamster tracheal explants. In Vitro Cell Dev Biol21:207-15 1985

PubMed ID: 4008434

Krieger M, Complementation of mutations in the LDL pathway of receptor-mediated endocytosis by cocultivation of LDL receptor-defective hamster cell mutants. Cell33:413-22 1983

PubMed ID: 6305509

Tarone RE, Scudiero DA, Robbins JH, Statistical methods for in vitro cell survival assays. Mutat Res111:79-96 1983

PubMed ID: 6621576

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