GM05565

GM05565 Fibroblast from Skin, Inguinal area

Description:

APPARENTLY HEALTHY INDIVIDUAL

Affected:

No

Sex:

Male

Age:

3 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Apparently Healthy Collection

Biopsy Source

Inguinal area

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Inguinal area

Race

Hispanic/Latino

Relation to Proband

proband

Confirmation

Karyotypic analysis and Case history

ISCN

46,XY[18]

Species

Homo sapiens

Common Name

Human

Remarks

Hispanic; skin biopsy (inguinal); past history of asthma; 46,XY

Characterizations

PDL at Freeze

6.46

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Chromosome Analysis

Phenotypic Data

Remarks

Hispanic; skin biopsy (inguinal); past history of asthma; 46,XY

Publications

Son SM, Park SJ, Breusegem SY, Larrieu D, Rubinsztein DC, p300 nucleocytoplasmic shuttling underlies mTORC1 hyperactivation in Hutchinson-Gilford progeria syndrome Nature cell biology: 2023

PubMed ID: 38267537

Vieira Neto E, Wang M, Szuminsky AJ, Ferraro L, Koppes E, Wang Y, Van't Land C, Mohsen AW, Zanatta G, El-Gharbawy AH, Anthonymuthu TS, Tyurina YY, Tyurin VA, Kagan V, Bayir H, Vockley J, Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency JCI insight9: 2023

PubMed ID: 39088276

Fafián-Labora JA, O'Loghlen A, NF-?B/IKK activation by small extracellular vesicles within the SASP Aging cell20:e13426 2021

PubMed ID: 34187082

Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupré T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D, University of Washington Center for Mendelian Genomics (UW-CMG) D, Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH, A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction American journal of human genetics108:1040-1052 2021

PubMed ID: 33964207

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 advances6:1040-1052 2020

PubMed ID: 33268356

Fafián-Labora JA, Rodríguez-Navarro JA, O'Loghlen A, Small Extracellular Vesicles Have GST Activity and Ameliorate Senescence-Related Tissue Damage Cell metabolism6:1040-1052 2020

PubMed ID: 32574561

Lee J, Bignone PA, Coles LS, Liu Y, Snyder E, Larocca D, Induced pluripotency and spontaneous reversal of cellular aging in supercentenarian donor cells Biochemical and biophysical research communications6:1040-1052 2020

PubMed ID: 32115145

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 Micromachines11:1040-1052 2020

PubMed ID: 32847135

Tambe MA, Ng BG, Shimada S, Wolfe LA, Adams DR, Undiagnosed Diseases Network DR, Gahl WA, Bamshad MJ, Nickerson DA, University of Washington Centre for Mendelian Genomics DA, Malicdan MCV, Freeze HH, Mutations in GET4 disrupt the transmembrane domain recognition complex pathway Journal of inherited metabolic disease11:1040-1052 2020

PubMed ID: 32395830

Ciesiolka A, Stroynowska-Czerwinska A, Joachimiak P, Ciolak A, Kozlowska E, Michalak M, Dabrowska M, Olejniczak M, Raczynska KD, Zielinska D, Wozna-Wysocka M, Krzyzosiak WJ, Fiszer A, Artificial miRNAs targeting CAG repeat expansion in ORFs cause rapid deadenylation and translation inhibition of mutant transcripts Cellular and molecular life sciences : CMLS11:1040-1052 2019

PubMed ID: 32696070

Tambe MA, Ng BG, Freeze HH, N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity Cell reports29:4620-4631.e4 2019

PubMed ID: 31875565

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 Biology19:4620-4631.e4 2018

PubMed ID: 30567591

Flint M, Chatterjee P, Lin DL, McMullan LK, Shrivastava-Ranjan P, Bergeron É, Lo MK, Welch SR, Nichol ST, Tai AW, Spiropoulou CF, A genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus Nature communications10:285 2018

PubMed ID: 30655525

Sanchez-Roman I1, Lautrup S2, Aamann MD2, Neilan EG3, Østergaard JR4, Stevnsner T5., Two Cockayne Syndrome patients with a novel splice site mutation - clinical and metabolic analyses. Mechanisms of Ageing and Development 175:7-16 2018

PubMed ID: 29944916

Sola-Carvajal A, Revêchon G, Helgadottir HT, Whisenant D, Hagblom R, Döhla J, Katajisto P, Brodin D, Fagerström-Billai F, Viceconte N, Eriksson M, Accumulation of Progerin Affects the Symmetry of Cell Division and Is Associated with Impaired Wnt Signaling and the Mislocalization of Nuclear Envelope Proteins The Journal of investigative dermatology139:2272-2280.e12 2018

PubMed ID: 31128203

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

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

Chen JY, Lin JR, Tsai FC, Meyer T., Dosage of Dyrk1a Shifts Cells within a p21-Cyclin D1 Signaling Map to Control the Decision to Enter the Cell Cycle. Mol Cell.52(1):87-100 2013

PubMed ID: 24119401

Korade Z, Xu L, Harrison FE, Ahsen R, Hart SE, Folkes OM, Mirnics K, Porter NA, Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome Biol Psychiatry52(1):87-100 2013

PubMed ID: 23896203

Liu ML, Zang T, Zou Y, Chang JC, Gibson JR, Huber KM, Zhang CL, Small molecules enable neurogenin 2 to efficiently convert human fibroblasts into cholinergic neurons Nature communications4:2183 2013

PubMed ID: 23873306

Kudo M, Brem MS, Canfield WM, Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase alpha / beta -Subunits Precursor Gene. Am J Hum Genet78(3):451-63 2006

PubMed ID: 16465621

Raile K, Klammt J, Schneider A, Keller A, Laue S, Smith R, Pfäffle R, Kratzsch J, Keller E, Kiess W, Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R The Journal of clinical endocrinology and metabolism91:2264-71 2006

PubMed ID: 16569742

Stites T, Storms D, Bauerly K, Mah J, Harris C, Fascetti A, Rogers Q, Tchaparian E, Satre M, Rucker RB, Pyrroloquinoline quinone modulates mitochondrial quantity and function in mice The Journal of nutrition136:390-6 2006

PubMed ID: 16424117

Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D, Pfaffle R, Raile K, Seidel B, Smith RJ, Chernausek SD; Intrauterine Growth Retardation (IUGR) Study Group, IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. N Engl J Med349(23):2211-22 2003

PubMed ID: 14657428

Umeda A, Fujita H, Kuronita T, Hirosako K, Himeno M, Tanaka Y, Distribution and trafficking of MPR300 is normal in cells with cholesterol accumulated in late endocytic compartments: evidence for early endosome-to-TGN trafficking of MPR300. J Lipid Res44(10):1821-32 2003

PubMed ID: 12867541

Herzing LB, Cook Jr EH Jr, Ledbetter DH, Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications. Hum Mol Genet11(15):1707-18 2002

PubMed ID: 12095913

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

Nesslinger NJ, Gorski JL, Kurczynski TW, Shapira SK, Siegel-Bartelt J, Dumanski JP, Cullen RF Jr, French BN, McDermid HE, Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3. Am J Hum Genet54:464-72 1994

PubMed ID: 7906921

Ostlund RE Jr, Yang JW, Heath-Monnig E, Semenkovich CF, Increased low density lipoprotein receptor expression mediated through the insulin-like growth factor-I receptor in cultured fibroblasts. Mol Endocrinol8:904-9 1994

PubMed ID: 7527123

Bucan M, Gatalica B, Nolan P, Chung A, Leroux A, Grossman MH, Nadeau JH, Emanuel BS, Budarf M, Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse. Hum Mol Genet2:1245-52 1993

PubMed ID: 8401507

McDermid HE, Budarf ML, Emanuel BS, Long-range restriction map of human chromosome 22q11-22q12 between the lambda immunoglobulin locus and the Ewing sarcoma breakpoint. Genomics18:308-18 1993

PubMed ID: 7507075

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

Budarf M, Sellinger B, Griffin C, Emanuel BS, Comparative mapping of the constitutional and tumor-associated 11;22 translocations. Am J Hum Genet45:128-39 1989

PubMed ID: 2741943

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

Shireman RB, Muth J, Toth JP, [14C]acetate incorporation by cultured normal, familial hypercholesterolemia and Down's syndrome fibroblasts. Biochim Biophys Acta958:352-60 1988

PubMed ID: 2963664

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

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

Shireman RB, Wei CI, Uptake of 2,3,7,8-tetrachlorodibenzo-p-dioxin from plasma lipoproteins by cultured human fibroblasts. Chem Biol Interact58:1-12 1986

PubMed ID: 3708718

Coates PM, Hale DE, Stanley CA, Corkey BE, Cortner JA, Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes. Pediatr Res19:671-6 1985

PubMed ID: 4022673