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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Cell Type
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Fibroblast
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Transformant
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Untransformed
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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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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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| Passage Frozen |
1 |
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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 |
613208.0007; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
ARG579TER; Gozukara et al. (J. Invest. Derm. 117: 197-204, 2001) found a C-to-T transition at nucleotide 1840 in XPC exon 8, which converted arginine-579 to a stop codon (R579X). This change leads to a truncation of the XPC protein at amino acid 579 rather than at its full length of 940 amino acids. |
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| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 2 |
613208.0007; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
ARG579TER; Gozukara et al. (J. Invest. Derm. 117: 197-204, 2001) found a C-to-T transition at nucleotide 1840 in XPC exon 8, which converted arginine-579 to a stop codon (R579X). This change leads to a truncation of the XPC protein at amino acid 579 rather than at its full length of 940 amino acids. |
| Remarks |
XP67TMA; Turkish; clinically affected; affected sister is GM14869; skin lesions onset at age 1 yr; skin carcinomas; atrophy; telangiectasias; actinic keratosis; freckles; hypopigmentation; no neurological abnormalities; deceased at age 10; consanguinity; donor subject is homozygous for a C>T nonsense mutation in exon 8 at nucleotide 1840 (1840C>T) which converts the CGA codon of arginine at amino acid 579 to a UGA stop codon resulting in marked truncation at codon 940 in the XPC gene |
| Kim HS, Jeong YK, Hur JK, Kim JS, Bae S, Adenine base editors catalyze cytosine conversions in human cells Nature biotechnology37:1145-1148 2019 |
| PubMed ID: 31548727 |
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| Lee C, Hyun Jo D, Hwang GH, Yu J, Kim JH, Park SE, Kim JS, Kim JH, Bae S, CRISPR-Pass: Gene Rescue of Nonsense Mutations Using Adenine Base Editors Molecular therapy : the journal of the American Society of Gene Therapy27:1364-1371 2019 |
| PubMed ID: 31164261 |
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| Rajkumar-Calkins AS, Szalat R, Dreze M, Khan I, Frazier Z, Reznichenkov E, Schnorenberg MR, Tsai YF, Nguyen H, Kochupurakkal B, D'Andrea AD, Shapiro GI, Lazaro JB, Mouw KW, Functional profiling of nucleotide Excision repair in breast cancer DNA repair82:102697 2019 |
| PubMed ID: 31499327 |
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| Bidon B1,2,3,4, Iltis I1,2,3,4, Semer M1,2,3,4, Nagy Z1,2,3,4, Larnicol A1,2,3,4, Cribier A5, Benkirane M5, Coin F6,7,8,9, Egly JM10,11,12,13, Le May N14,15,16,17., XPC is an RNA polymerase II cofactor recruiting ATAC to promoters by interacting with E2F1 Nature Communications9:102697 2018 |
| PubMed ID: 29973595 |
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| 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 |
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| Gozukara EM, Khan SG, Metin A, Emmert S, Busch DB, Shahlavi T, Coleman DM, Miller M, Chinsomboon N, Stefanini M, Kraemer KH, A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. J Invest Dermatol117(2):197-204 2001 |
| PubMed ID: 11511294 |
| Passage Frozen |
1 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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