AG06929
Fibroblast from Skin, Arm
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Arm
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Race
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White
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Ethnicity
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EGYPTIAN
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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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| PDL at Freeze |
14 |
| Passage Frozen |
10 |
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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 |
| |
| Gene |
XPA |
| Chromosomal Location |
9q22.3-q31 |
| Allelic Variant 1 |
278700.0004; XERODERMA PIGMENTOSUM, TYPE A |
| Identified Mutation |
ARG228TER; Satokata et al. [Mutat. Res. 273: 193-202, (1992)] described a nucleotide transition altering the arg-228 codon (CGA) to a nonsense codon (TGA). The mutation created a new cleavage site for the restriction endonuclease HphI. |
| |
| Gene |
XPA |
| Chromosomal Location |
9q22.3-q31 |
| Allelic Variant 2 |
278700.0004; XERODERMA PIGMENTOSUM, TYPE A |
| Identified Mutation |
ARG228TER; Satokata et al. [Mutat. Res. 273: 193-202, (1992)] described a nucleotide transition altering the arg-228 codon (CGA) to a nonsense codon (TGA). The mutation created a new cleavage site for the restriction endonuclease HphI. |
| Remarks |
The Egyptian donor had features of freckled and pigmented skin on face, keratosis on the right cheek and carcinoma on the nose. Family history is negative, but parents are first cousins. The culture was initiated on 7/13/83 using explants of minced skin tissue from a biopsy taken earlier and stored frozen. The cell morphology is fibroblast-like. Complementation group assignment and DNA repair deficiency have been verified for this culture (XP23CA). The donor subject is homozygous for a C-to-T substitution at nucleotide 682 (682C>T) which alters the arg-228 codon (CGA) to a nonsense codon (TGA) in exon 6 of the XPA gene [ARG228TER (R228X)]. Culture grows slowly. |
| 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 |
14 |
| Passage Frozen |
10 |
| 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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