Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
Class |
Repair Defective and Chromosomal Instability Syndromes |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Ethnicity
|
EGYPTIAN
|
Family Member
|
2
|
Relation to Proband
|
first cousin
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
3 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
- |
|
|