Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Quantity |
10ug |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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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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ISCN
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46,XY
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
XP20BE; the donor has been diagnosed as having Xeroderma pigmentosum as well as Cockayne syndrome. He displays clinical features of sun sensitivity, freckling, atrophy, depigmentation of facial skin, photophobia, microcephaly, mental retardation, short stature, impaired hearing, spasticity, and increased reflexes. The culture was initiated on 5/15/86 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. A skin fibroblast culture from same donor is AG08803. |
| Panigrahi GB, Lau R, Montgomery SE, Leonard MR, Pearson CE, Slipped (CTG)*(CAG) repeats can be correctly repaired, escape repair or undergo error-prone repair Nature structural & molecular biology12:654-62 2005 |
| PubMed ID: 16025129 |
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| McCulloch SD, Gu L, Li GM, Nick-dependent and -independent processing of large DNA loops in human cells. J Biol Chem278(50):50803-9 2003 |
| PubMed ID: 14522965 |
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| Bowman KK, Smith CA, Hanawalt PC, Excision-repair patch lengths are similar for transcription-coupled repair and
global genome repair in UV-irradiated human cells. Mutat Res385(2):95-105 1997 |
| PubMed ID: 9447231 |
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| Moriwaki S, Stefanini M, Lehmann AR, Hoeijmakers JH, Robbins JH, Rapin I, Botta E, Tanganelli B, Vermeulen W, Broughton BC, Kraemer KH, DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells. J Invest Dermatol107(4):647-53 1996 |
| PubMed ID: 8823375 |
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| Matsunaga T, Mu D, Park CH, Reardon JT, Sancar A, Human DNA repair excision nuclease. Analysis of the roles of the subunits involved in dual incisions by using anti-XPG and anti-ERCC1 antibodies. J Biol Chem270:20862-9 1995 |
| PubMed ID: 7657672 |
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