NA08333
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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Foreskin
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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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Black/African American
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/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 |
4.48 |
| Passage Frozen |
7 |
| |
| 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 |
Foreskin fibroblast culture; 46,XY with 4% of the cells examined showing random chromosome loss and 2% showing random chromosomal aberrations |
| Gabanella F, Onori A, Ralli M, Greco A, Passananti C, Di Certo MG, SMN protein promotes membrane compartmentalization of ribosomal protein S6 transcript in human fibroblasts Scientific reports10:19000 2020 |
| PubMed ID: 33149163 |
| |
| Baek J, Jeong H, Ham Y, Jo YH, Choi M, Kang M, Son B, Choi S, Ryu HW, Kim J, Shen H, Sydara K, Lee SW, Kim SY, Han SB, Oh SR, Cho S, Improvement of spinal muscular atrophy via correction of the SMN2 splicing defect by Brucea javanica (L) Merr extract and Bruceine D Phytomedicine : international journal of phytotherapy and phytopharmacology65:153089 2019 |
| PubMed ID: 31563042 |
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| Gorshkov K, Wang AQ, Sun W, Fisher E, Frigeni M, Singleton M, Thorne N, Class B, Huang W, Longo N, Do MT, Ottinger EA, Xu X, Zheng W, Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts Pharmacology research & perspectives7:e00525 2019 |
| PubMed ID: 31859463 |
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| Pavani G, Laurent M, Fabiano A, Cantelli E, Sakkal A, Corre G, Lenting PJ, Concordet JP, Toueille M, Miccio A, Amendola M, Ex vivo editing of human hematopoietic stem cells for erythroid expression of therapeutic proteins Nature communications11:3778 2019 |
| PubMed ID: 32728076 |
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| Son YS, Choi K, Lee H, Kwon O, Jung KB, Cho S, Baek J, Son B, Kang SM, Kang M, Yoon J, Shen H, Lee S, Oh JH, Lee HA, Lee MO, Cho HS, Jung CR, Kim J, Cho S, Son MY, A SMN2 splicing modifier rescues the disease phenotypes in an in vitro human spinal muscular atrophy model Stem cells and development11:3778 2019 |
| PubMed ID: 30667343 |
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| Loughlin DT1, Artlett CM., Modification of collagen by 3-deoxyglucosone alters wound healing through differential regulation of p38 MAP kinase. PLoS One6(5):3778 2011 |
| PubMed ID: 21573155 |
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| Jorge-Finnigan A, Gámez A, Pérez B, Ugarte M, Richard E, Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type Biochimica et biophysica acta1802:959-67 2010 |
| PubMed ID: 20696242 |
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| Loughlin DT1, Artlett CM., 3-Deoxyglucosone-collagen alters human dermal fibroblast migration and adhesion: implications for impaired wound healing in patients with diabetes. Wound Repair Regen17(5):739-49 2009 |
| PubMed ID: 19769726 |
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| Thi Man N, Humphrey E, Lam LT, Fuller HR, Lynch TA, Sewry CA, Goodwin PR, Mackenzie AE, Morris GE, A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy Neurology17(5):739-49 2008 |
| PubMed ID: 18633133 |
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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 |
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| Wan L, Battle DJ, Yong J, Gubitz AK, Kolb SJ, Wang J, Dreyfuss G, The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy Molecular and cellular biology25:5543-51 2005 |
| PubMed ID: 15964810 |
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| DiDonato CJ, Parks RJ, Kothary R, Development of a gene therapy strategy for the restoration of survival motor neuron protein expression: implications for spinal muscular atrophy therapy. Hum Gene Ther14(2):179-88 2003 |
| PubMed ID: 12614569 |
| |
| Girnita L, Girnita A, Brodin B, Xie Y, Nilsson G, Dricu A, Lundeberg J, Wejde J,
Bartolazzi A, Wiman KG, Larsson O, Increased expression of insulin-like growth factor I receptor in malignant cells
expressing aberrant p53: functional impact. Cancer60(18):5278-83 2000 |
| PubMed ID: 11016658 |
| |
| Sacksteder KA, Biery BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT, Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. Am J Hum Genet66(6):1736-43 2000 |
| PubMed ID: 10775527 |
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| Yoshizawa A, Clemmons DR, Testosterone and insulin-like growth factor (IGF) I interact in controlling
IGF-binding protein production in androgen-responsive foreskin fibroblasts. J Clin Endocrinol Metab85(4):1627-33 2000 |
| PubMed ID: 10770208 |
| |
| Smilinich NJ, Day CD, Fitzpatrick GV, Caldwell GM, Lossie AC, Cooper PR, Smallwood AC, Joyce JA, Schofield PN, Reik W, Nicholls RD, Weksberg R, Driscoll DJ, Maher ER, Shows TB, Higgins MJ, A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proc Natl Acad Sci U S A96:8064-9 1999 |
| PubMed ID: 10393948 |
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| Bjorkegren J, Karpe F, Vitols S, Tornvall P, Hamsten A, Transient triglyceridemia in healthy normolipidemic men increases cellular processing of large very low density lipoproteins by fibroblasts in vitro. J Lipid Res39:423-36 1998 |
| PubMed ID: 9508002 |
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| Russell DW, Hirata RK, Human gene targeting by viral vectors [see comments] Nat Genet18:325-30 1998 |
| PubMed ID: 9537413 |
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| Axelson M, Larsson O, 27-hydroxylated low density lipoprotein (LDL) cholesterol can be converted to 7alpha,27-dihydroxy-4-cholesten-3-one (cytosterone) before suppressing cholesterol production in normal human fibroblasts. Evidence that an altered metabolism of ldl cholesterol can underlie a defective feedback control in malignant cells. J Biol Chem271:12724-36 1996 |
| PubMed ID: 8662693 |
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| Slotte JP, Tenhunen J, Porn I, Effects of sphingomyelin degradation on cholesterol mobilization and efflux to high-density lipoproteins in cultured fibroblasts. Biochim Biophys Acta1025:152-6 1990 |
| PubMed ID: 2364074 |
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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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