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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Family Member
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2
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Relation to Proband
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brother
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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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| PDL at Freeze |
6.7 |
| Passage Frozen |
12 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
XPA |
| Chromosomal Location |
9q22.3-q31 |
| Allelic Variant 1 |
278700.0003; XERODERMA PIGMENTOSUM, TYPE A |
| Identified Mutation |
5BP DEL; Satokata et al. [Mutat. Res. 273: 193-202, (1992)] found a 5-bp deletion (C349-T353) in exon 5 which causes a frameshift that results in the replacement of the sequence leu-met-asn (amino acids 117-119) by glu-pro-leu, followed by translation termination. |
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| Gene |
XPA |
| Chromosomal Location |
9q22.3-q31 |
| Allelic Variant 2 |
278700.0002; XERODERMA PIGMENTOSUM, TYPE A |
| Identified Mutation |
CYS108PHE; In the patient represented by the cell line GM02009, Satokata et al. [Mutat. Res. 273: 193-202, (1992)] found compound heterozygosity for 2 mutations: a 5-bp deletion C349-T353) in exon 5 causing a frameshift that resulted in the replacement of the sequence leu-met-asn (amino acids 117-119) by glu-pro-leu, followed by translation termination; and a G-to-T transversion at nucleotide 323 altering the cys-108 codon (TGT) to a phe codon (TTT) that resulted in disruption of a putative zinc finger domain of the XPA protein. |
| Remarks |
XP2PD; mental and growth retardation; photosensitivity; the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a 5 bp deletion (CTTAT) at nucleotides 349-353 in exon 3 which causes a frameshift that results in the replacement of the sequence leu-met-asn (amino acids 117-119) by glu-pro-leu, followed by translation termination; the second allele carries a G-to-T transversion at nucleotide 323 in exon 3 altering the Cys-108 codon (TGT) to a Phe codon (TTT) that results in disruption of a putative zinc finger domain of the XPA protein [Cys108Phe (C108F)]. |
| 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 |
| Cumulative PDL at Freeze |
15 |
| Passage Frozen |
12 |
| Split Ratio |
1:2 |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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