Description:
XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
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 |
Cell Type
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Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Ethnicity
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WESTERN EUROPEAN
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
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Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
5 |
|
REVERSE TRANSCRIPTASE |
Srivastava et al (Mech Ageing Dev 51:133-138, 1990) reported that they were unable to detect reverse transcriptase-like activity in this cell culture. |
|
Remarks |
Classical symptoms |
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 |
|
Satokata I, Tanaka K, Miura N, Narita M, Mimaki T, Satoh Y, Kondo S, Okada Y, Three nonsense mutations responsible for group A xeroderma pigmentosum. Mutat Res273:193-202 1992 |
PubMed ID: 1372102 |
|
Goldstein S, Jones RA, Hardin JW, Braunstein GD, Shmookler Reis RJ, Expression of alpha- and beta-human chorionic gonadotropin subunits in cultured human cells. In Vitro Cell Dev Biol26:857-64 1990 |
PubMed ID: 1699921 |
|
Kunisada T, Miller CD, Schneider EL, Ultraviolet light-induced DNA damage in transcribed sequences: no change in repair with age. Mutat Res237:75-81 1990 |
PubMed ID: 2164149 |
|
Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, Okada Y, Characterization of a splicing mutation in group A xeroderma pigmentosum. Proc Natl Acad Sci U S A87:9908-12 1990 |
PubMed ID: 1702221 |
|
Srivastava A, Shmookler Reis RJ, Goldstein S, Absence of reverse transcriptase activity in human diploid fibroblasts. Mech Ageing Dev51:133-8 1990 |
PubMed ID: 1689785 |
Passage Frozen |
5 |
Split Ratio |
1:3 |
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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