Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
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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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Black/African American
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Family Member
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1
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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 |
6.22 |
| Passage Frozen |
15 |
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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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| Remarks |
XP17BE; 25% of normal UV induced unscheduled DNA synthesis; see GM02253E Lymphoid; typical skin and neurologic abnormalities; onset at about age 10; significantly lower than normal colony forming ability post UV irradiation |
| Zhu Q, Wani G, Sharma N, Wani A, Lack of CAK complex accumulation at DNA damage sites in XP-B and XP-B/CS fibroblasts reveals differential regulation of CAK anchoring to core TFIIH by XPB and XPD helicases during nucleotide excision repair DNA repair11:942-50 2012 |
| PubMed ID: 23083890 |
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| Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, Khan SG, Nadem C, Digiovanna JJ, Kraemer KH, Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs non-cancer-prone trichothiodystrophy Human mutation29:1194-208 2008 |
| PubMed ID: 18470933 |
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| Tu Y, Bates S, Pfeifer GP, Sequence-specific and domain-specific DNA repair in xeroderma pigmentosum and Cockayne syndrome cells. J Biol Chem272:20747-55 1997 |
| PubMed ID: 9252397 |
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| Johnson RT, Squires S, The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy. Mutat Res273(2):97-118 1992 |
| PubMed ID: 1372108 |
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| Andrews AD, Barrett SF, Robbins JH, Xeroderma pigmentosum neurological abnormalities correlate with colony- forming ability after ultraviolet radiation. Proc Natl Acad Sci U S A75:1984-8 1978 |
| PubMed ID: 273925 |
| dbSNP |
dbSNP ID: 18726 |
| NCBI GTR |
278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| OMIM |
278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| Omim Description |
TRICHOTHIODYSTROPHY, TYPE 1, INCLUDED; TDD1, INCLUDED |
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XERODERMA PIGMENTOSUM IV; XP4TRICHOTHIODYSTROPHY WITH SUN SENSITIVITY, INCLUDED |
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XERODERMA PIGMENTOSUM VIII, FORMERLY; XP8, FORMERLY |
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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
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XP, GROUP D; XPDC |
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XP, GROUP H, FORMERLY; XPH, FORMERLY |
| Passage Frozen |
15 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
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