GM00969

GM00969 Fibroblast from Skin, Unspecified

Description:

APPARENTLY HEALTHY INDIVIDUAL

Affected:

No

Sex:

Female

Age:

2 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

White

Country of Origin

USA

Relation to Proband

proband

Confirmation

Karyotypic analysis and Case history

Species

Homo sapiens

Common Name

Human

Remarks

Skin biopsy; 46,XX; 6% of cells show random chromosome loss and 2% showed random chromosomal aberrations.

Characterizations

PDL at Freeze

6.1

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,XX; 6% of cells show random chromosome loss and 2% showed random chromosomal aberrations.

Publications

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

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

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 2022

PubMed ID: 36765070

Panagaki T, Pecze L, Randi EB, Nieminen AI, Szabo C, Role of the cystathionine ß-synthase / H Redox biology55:102416 2022

PubMed ID: 35921774

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

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

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

PubMed ID: 34187082

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Bennett CB, Rainbow AJ, Enhanced reactivation and mutagenesis of UV-irradiated adenovirus in normal human fibroblasts. Mutagenesis3:157-64 1988

PubMed ID: 3288839

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

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

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

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

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

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

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

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

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

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

Leone A, Pavlakis GN, Hamer DH, Menkes' disease: abnormal metallothionein gene regulation in response to copper. Cell40:301-9 1985

PubMed ID: 3967294

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

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

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

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

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

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

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

Shireman RB, Remsen JF, Imipramine associations with plasma components and its uptake by cultured human cells. Life Sci33:2165-71 1983

PubMed ID: 6645795

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

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

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

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

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

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

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