GM16385
LCL from B-Lymphocyte
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| 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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White
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Ethnicity
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ASHKENAZI/SEPHARDIC
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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 LINE assay |
| |
| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 1 |
S140fsX146; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
525_528delTGAG |
| |
| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 2 |
K522X; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
LYS522TER |
| Remarks |
XP87BE; clinically affected; Ashkenazi/Sephardic Jewish; sun sensitivity; freckles; hyper- and hypo-pigmentation; multiple skin cancers including basal cell carcinoma, squamous cell carcinoma, and melanoma; see GM16381 Fibroblast; donor subject is a compound heterozygote: the maternal allele has a 4 bp deletion in exon 4 of the XPC gene (525_528delTGAG) resulting in a frameshift and premature termination (S140fsX146); the paternal allele has an A>T transversion at nucleotide 1669 in exon 8 (1669A>T) resulting in a substitution of a termination signal for lysine at codon 522 [Lys522Ter (K522X)] |
| Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H, Emmert S, Imoto K, Muniz-Medina V, Baker CC, Digiovanna JJ, Schmidt D, Khadavi A, Metin A, Gozukara E, Slor H, Sarasin A, Kraemer KH, Reduced XPC DNA repair gene mRNA levels in clinically normal arents of xeroderma pigmentosum patients. Carcinogenesis27(1):84-94 2005 |
| PubMed ID: 16081512 |
| Split Ratio |
1:2 |
| 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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