NA00041
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from Fibroblast
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Race
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White
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Ethnicity
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PUERTO RICAN
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Family Member
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1
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Relation to Proband
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daughter
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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 |
5.9 |
| Passage Frozen |
17 |
| |
| 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 |
| |
| Remarks |
Puerto Rican; skin biopsy; mother is GM00037. |
| Windener F, Grewing L, Thomas C, Dorion MF, Otteken M, Kular L, Jagodic M, Antel J, Albrecht S, Kuhlmann T, Physiological aging and inflammation-induced cellular senescence may contribute to oligodendroglial dysfunction in MS Acta neuropathologica147:82 2024 |
| PubMed ID: 38722375 |
| |
| 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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| Gao D, Morini E, Salani M, Krauson AJ, Chekuri A, Sharma N, Ragavendran A, Erdin S, Logan EM, Li W, Dakka A, Narasimhan J, Zhao X, Naryshkin N, Trotta CR, Effenberger KA, Woll MG, Gabbeta V, Karp G, Yu Y, Johnson G, Paquette WD, Cutting GR, Talkowski ME, Slaugenhaupt SA, A deep learning approach to identify gene targets of a therapeutic for human splicing disorders Nature communications12:3332 2020 |
| PubMed ID: 34099697 |
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| Panagaki T, Randi EB, Szabo C, Role of 3-Mercaptopyruvate Sulfurtransferase in the Regulation of Proliferation and Cellular Bioenergetics in Human Down Syndrome Fibroblasts Biomolecules10:3332 2020 |
| PubMed ID: 32340322 |
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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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| 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 |
| |
| Pal A, Severin F, Lommer B, Shevchenko A, Zerial M, Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early endosome motility and is up-regulated in Huntington's disease The Journal of cell biology172:605-18 2006 |
| PubMed ID: 16476778 |
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| Chen FW, Gordon RE, Ioannou YA, NPC1 late endosomes contain elevated levels of non-esterified ('free') fatty acids and an abnormally glycosylated form of the NPC2 protein The Biochemical journal390:549-61 2005 |
| PubMed ID: 15896196 |
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| Walter M, Davies JP, Ioannou YA, Telomerase immortalization upregulates Rab9 expression and restores LDL cholesterol egress from Niemann-Pick C1 late endosomes. J Lipid Res44(2):243-53 2003 |
| PubMed ID: 12576506 |
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| Koval M, Pagano RE, Sorting of an internalized plasma membrane lipid between recycling and degradative pathways in normal and Niemann-Pick, type A fibroblasts. J Cell Biol111:429-42 1990 |
| PubMed ID: 2380243 |
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| Weiss MJ, Ray K, Fallon MD, Whyte MP, Fedde KN, Lafferty MA, Mulivor RA, Harris H, Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia. Am J Hum Genet44:686-94 1989 |
| PubMed ID: 2705456 |
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| 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 |
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| Decker RS, Mohrenweiser HW, Cell proliferation-associated expression of a recently evolved isozyme of triosephosphate isomerase. Biochem Genet23:267-80 1985 |
| PubMed ID: 4015618 |
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| Goldman D, Goldin LR, Rathnagiri P, O'Brien SJ, Egeland JA, Merril CR, Twenty-seven protein polymorphisms by two-dimensional electrophoresis of serum, erythrocytes, and fibroblasts in two pedigrees. Am J Hum Genet37:898-911 1985 |
| PubMed ID: 3863481 |
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| Hale DE, Batshaw ML, Coates PM, Frerman FE, Goodman SI, Singh I, Stanley CA, Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia. Pediatr Res19:666-71 1985 |
| PubMed ID: 4022672 |
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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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| 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):80-92 1982 |
| PubMed ID: 6141728 |
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| Van Keuren ML, Goldman D, Merril CR, Protein variations associated with Down's syndrome, chromosome 21, and Alzheimer's disease. Ann N Y Acad Sci396:55-67 1982 |
| PubMed ID: 6217777 |
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| Vladutiu GD, Fike RM, Amigone VT, Influence of sialic acid on cell surface properties in I-cell disease fibroblasts. In Vitro17:588-92 1981 |
| PubMed ID: 7327591 |
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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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| Schilling EE, Rechler MM, Grunfeld C, Rosenberg AM, Primary defect of insulin receptors in skin fibroblasts cultured from an infant with leprechaunism and insulin resistance. Proc Natl Acad Sci U S A76:5877-81 1979 |
| PubMed ID: 293690 |
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