Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA
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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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EGYPTIAN
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Family Member
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2
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Relation to Proband
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first cousin
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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 |
3 |
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| Gene |
XPA |
| Chromosomal Location |
9q22.3-q31 |
| Allelic Variant 1 |
frameshift; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A |
| Identified Mutation |
374delC |
| |
| Gene |
XPA |
| Chromosomal Location |
9q22.3-q31 |
| Allelic Variant 2 |
frameshift; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A |
| Identified Mutation |
374delC |
| Remarks |
Egyptian; XP2CA; parents are 1st cousins; onset of skin symptoms at one year of age; photophobia; microcephaly and mental deficiency probably from birth; 2 similarly affected sibs; donor subject is homozygous for a deletion C at nucleotide 374 (374delC) in exon 3 of the XPA gene which results in a frameshift which causes a translation termination. |
| States JC, McDuffie ER, Myrand SP, McDowell M, Cleaver JE, Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. Hum Mutat12:103-13 1998 |
| PubMed ID: 9671271 |
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| Thompson LH, Mooney CL, Burkhart-Schultz K, Carrano AV, Siciliano MJ, Correction of a nucleotide-excision-repair mutation by human chromosome 19 in hamster-human hybrid cells. Somat Cell Mol Genet11:87-92 1985 |
| PubMed ID: 3919454 |
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| Wright WE, Toxin-antitoxin selection for isolating somatic cell fusion products between any cell types. Proc Natl Acad Sci U S A81:7822-6 1984 |
| PubMed ID: 6595662 |
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| Cleaver JE, Zelle B, Hashem N, El-Hefnawi MH, German J, Xeroderma pigmentosum patients from Egypt: II. Preliminary correlations of epidemiology, clinical symptoms and molecular biology. J Invest Dermatol77:96-101 1981 |
| PubMed ID: 7252263 |
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| Hashem N, Bootsma D, Keijzer W, Greene A, Coriell L, Thomas G, Cleaver JE, Clinical characteristics, DNA repair, and complementation groups in xeroderma pigmentosum patients from Egypt. Cancer Res40:13-8 1980 |
| PubMed ID: 7349892 |
| 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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