AG06971
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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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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ISCN
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45,XY,t(13;15)(13qter>13q10::15q10>15qter)[2]/46,XY[48]
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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 |
5 |
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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 |
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 |
new splice site; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A |
| Identified Mutation |
A>G change in intron 3 |
| Remarks |
The donor shows mild skin features of XP and definite neurological developmental delay. Family history is negative. The biopsy was taken antemortem on 4/26/83 from skin of the forearm. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblastlike. The donor subject carries two mutations in the XPA gene: a 5 bp deletion (349del5) in exon 3 which causes a frameshift and an A-to-G change in intron 3 which results in a new splice site. |
| 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 |
5 |
| Split Ratio |
1:2 |
| 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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