AG10033
LCL from B-Lymphocyte
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
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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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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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LCL from B-Lymphocyte
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Race
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American Indian/Alaska Native
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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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| 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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| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 1 |
83 bp ins/stop 34 codons downstream; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
IVS5.1-2A>C |
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| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 2 |
83 bp ins/stop 34 codons downstream; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
IVS5.1-2A>C |
| Remarks |
The American Indian donor (XP23BE) is clinically affected with features of sun sensitivity, freckling, over 50 skin cancers, and an astrocytoma of the spinal cord. The donor also has a cystic bone disorder of unknown origin. He has consanguineous parents and a sibling who died of X P. The blood specimen was taken ante-mortem on 5/16/88. The culture was initiated 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 AG10032. Donor subject is homozygous for an A>C transversion at -2 in intron 5.1 of the XPC gene (IVS5.1-2A>C) resulting in an 83 bp insertion of intron 5.1 with a stop 34 codons downstream. |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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