NA04390
DNA from Fibroblast
Description:
APPARENTLY HEALTHY INDIVIDUAL
FABRY DISEASE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Arm
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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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Relation to Proband
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proband
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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 |
7.3 |
| Passage Frozen |
9 |
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| 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 |
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| Remarks |
Skin biopsy (left forearm); 46,XX; fibroblasts have approximately 49% of control alpha-galactosidase activity; donor is healthy with a negative family history for Fabry; molecular analysis showed the donor subject has no mutation in the GLA gene, but does have a silent polymorphism (P6P) |
| Gizynska M, Witkowska JP, Karpowicz P, Rostankowski R, Chocron ES, Pickering AM, Osmulski PA, Gaczynska ME, Jankowska E, Proline- and arginine-rich peptides as flexible allosteric modulators of human proteasome activity Journal of medicinal chemistry: 2018 |
| PubMed ID: 30452262 |
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| Siddiqui A, Rivera-Sánchez S, Castro MD, Acevedo-Torres K, Rane A, Torres-Ramos CA, Nicholls DG, Andersen JK, Ayala-Torres S, Mitochondrial DNA damage is associated with reduced mitochondrial bioenergetics in Huntington's disease Free radical biology & medicine: 2011 |
| PubMed ID: 22709585 |
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| Ames D, Murphy N, Helentjaris T, Sun N, Chandler VL, Comparative analyses of human single- and multi-locus tandem repeats Genetics: 2008 |
| PubMed ID: 18562644 |
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| Glaros EN, Kim WS, Quinn CM, Wong J, Gelissen I, Jessup W, Garner B, Glycosphingolipid accumulation inhibits cholesterol efflux via the ABCA1/apolipoprotein A-I pathway: 1-phenyl-2-decanoylamino-3-morpholino-1-propanol is a novel cholesterol efflux accelerator The Journal of biological chemistry280:24515-23 2005 |
| PubMed ID: 15890646 |
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| Chow JP, Siu WY, Fung TK, Chan WM, Lau A, Arooz T, Ng CP, Yamashita K, Poon RY, DNA damage during the spindle-assembly checkpoint degrades CDC25A, inhibits cyclin-CDC2 complexes, and reverses cells to interphase. Mol Biol Cell14(10):3989-4002 2003 |
| PubMed ID: 14517313 |
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| Zhang MC, He L, Giro M, Yong SL, Tiller GE, Davidson JM, Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). J Biol Chem274:981-6 1999 |
| PubMed ID: 9873040 |
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| Schmidtchen A, Greenberg D, Zhao HG, Li HH, Huang Y, Tieu P, Zhao HZ, Cheng S, Zhao Z, Whitley CB, Di Natale P, Neufeld EF, NAGLU mutations underlying Sanfilippo syndrome type B American journal of human genetics62:64-9 1998 |
| PubMed ID: 9443878 |
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| Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF, The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci U S A93:6101-5 1996 |
| PubMed ID: 8650226 |
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| Zhang MC, Giro M, Quaglino D Jr, Davidson JM, Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain. J Clin Invest95:986-94 1995 |
| PubMed ID: 7884000 |
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| Etcheberrigaray E, Gibson GE, Alkon DL, Molecular mechanisms of memory and the pathophysiology of Alzheimer's disease. Ann N Y Acad Sci747:245-55 1994 |
| PubMed ID: 7847674 |
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| Etcheberrigaray R, Ito E, Kim CS, Alkon DL, Soluble beta-amyloid induction of Alzheimer's phenotype for human fibroblast K+ channels. Science264:276-9 1994 |
| PubMed ID: 8146663 |
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| Ito E, Oka K, Etcheberrigaray R, Nelson TJ, McPhie DL, Tofel-Grehl B, Gibson GE, Alkon DL, Internal Ca2+ mobilization is altered in fibroblasts from patients with Alzheimer disease. Proc Natl Acad Sci U S A91:534-8 1994 |
| PubMed ID: 8290560 |
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| Etcheberrigaray R, Ito E, Oka K, Tofel-Grehl B, Gibson GE, Alkon DL, Potassium channel dysfunction in fibroblasts identifies patients with Alzheimer disease. Proc Natl Acad Sci U S A90:8209-13 1993 |
| PubMed ID: 8367484 |
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| Giro M, Davidson JM, Familial co-segregation of the elastin phenotype in skin fibroblasts from Hutchinson-Gilford progeria. Mech Ageing Dev70:163-36 1993 |
| PubMed ID: 8246632 |
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| Huang HM, Toral-Barza L, Thaler H, Tofel-Grehl B, Gibson GE, Inositol phosphates and intracellular calcium after bradykinin stimulation in fibroblasts from young, normal aged and Alzheimer donors. Neurobiol Aging12:469-73 1991 |
| PubMed ID: 1770982 |
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| Kaneski CR, Oliver KL, Quirk JM, Cell line GM-4390 deficient in lysosomal alpha-galactosidase activity [letter] In Vitro Cell Dev Biol27A:277-8 1991 |
| PubMed ID: 1649815 |
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| 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 |
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| Little JB, Nichols WW, Troilo P, Nagasawa H, Strong LC, Radiation sensitivity of cell strains from families with genetic disorders predisposing to radiation-induced cancer. Cancer Res49:4705-14 1989 |
| PubMed ID: 2758405 |
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| Peterson C, Ratan RR, Shelanski ML, Goldman JE, Altered response of fibroblasts from aged and Alzheimer donors to drugs that elevate cytosolic free calcium. Neurobiol Aging9:261-6 1988 |
| PubMed ID: 3398992 |
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