GM14878
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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TURKISH
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Family Member
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2
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Relation to Proband
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sister
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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 |
613208.0009; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
IVS3AS,A>G,-24; In 3 sibs with mild xeroderma pigmentosum from consanguineous Turkish family, Khan et al. (Hum Molec Genet 13(3):343-352, 2004) identified homozygosity for a -24A-G transition in intron 3 of the XPC gene. Cells from the affected sibs produced 3 to 5% normal XPC message and had a higher level of post-UV host cell reactivation than cells from the severely affected sibs harboring the -9T-A mutation (278720.0008). The authors concluded that a small amount of normal XPC mRNA can provide partial protection against skin cancers. |
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| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 2 |
613208.0009; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
IVS3AS,A>G,-24; In 3 sibs with mild xeroderma pigmentosum from consanguineous Turkish family, Khan et al. (Hum Molec Genet 13(3):343-352, 2004) identified homozygosity for a -24A-G transition in intron 3 of the XPC gene. Cells from the affected sibs produced 3 to 5% normal XPC message and had a higher level of post-UV host cell reactivation than cells from the severely affected sibs harboring the -9T-A mutation (278720.0008). The authors concluded that a small amount of normal XPC mRNA can provide partial protection against skin cancers. |
| Remarks |
XP73TMA; Turkish; clinically affected; affected sisters are GM14876 and GM15723; see GM14879 Fibroblast; skin legions onset at age 5 yrs; skin carcinomas; freckles; consanguinity; donor subject is homozygous for an A>G transition in intron 3 of the XPC gene (IVS3-24A>G) which results in expression of both an mRNA of short size and the wild type size; the shorter mRNA has a skipped exon 4 which results in a frameshift and premature termination |
| Khan SG, Metin A, Gozukara E, Inui H, Shahlavi T, Muniz-Medina V, Baker CC, Ueda T, Aiken JR, Schneider TD, Kraemer KH, Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk. Hum Mol Genet13(3):343-52 2003 |
| PubMed ID: 14662655 |
| 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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