AG08803
Fibroblast from Skin, Arm
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
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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 |
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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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Fibroblast from Skin, Arm
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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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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 |
8 |
| Passage Frozen |
3 |
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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 using explants of minced skin tissue. The cell morphology is fibroblast-like. The culture is frozen at PDL 8. A lymphoblast culture from same donor is AG08802. |
| Emmert S, Slor H, Busch DB, Batko S, Albert RB, Coleman D, Khan SG, Abu-Libdeh B, DiGiovanna JJ, Cunningham BB, Lee MM, Crollick J, Inui H, Ueda T, Hedayati M, Grossman L, Shahlavi T, Cleaver JE, Kraemer KH, Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group g patients. J Invest Dermatol118(6):972-82 2002 |
| PubMed ID: 12060391 |
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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 |
| Cumulative PDL at Freeze |
8 |
| Passage Frozen |
3 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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