GM16957
Fibroblast from Skin, Arm
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2
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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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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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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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| Passage Frozen |
1 |
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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 |
ERCC2 |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 1 |
8-base insertion in cDNA, c.594-595ins CCCCCCAG; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| Identified Mutation |
c.595-10G>A, p.I199Pfs*52 |
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| Gene |
ERCC2 |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 2 |
126340.0015; XERODERMA PIGMENTOSUM, TYPE D |
| Identified Mutation |
ARG683TRP |
| Remarks |
XP35BE; clinically affected; skin biopsy taken from upper arm; marked sun sensitivity, but was well protected; now has minimal skin changes; no cancers; freckling of lips; reduced post-UV cell survival; affected brother is GM16955; see GM16956 Lymphoid |
| Ueda T, Compe E, Catez P, Kraemer KH, Egly JM, Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients The Journal of experimental medicine206:3031-46 2009 |
| PubMed ID: 19934020 |
| dbSNP |
dbSNP ID: 18239 |
| Gene Cards |
ERCC2 |
| Gene Ontology |
GO:0000287 magnesium ion binding |
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GO:0003677 DNA binding |
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GO:0004003 ATP-dependent DNA helicase activity |
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GO:0005515 protein binding |
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GO:0005524 ATP binding |
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GO:0005634 nucleus |
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GO:0005675 transcription factor TFIIH complex |
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GO:0006283 transcription-coupled nucleotide-excision repair |
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GO:0006355 regulation of transcription, DNA-dependent |
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GO:0006366 transcription from Pol II promoter |
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GO:0006917 induction of apoptosis |
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GO:0007605 perception of sound |
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GO:0016787 hydrolase activity |
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GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides |
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GO:0043139 5' to 3' DNA helicase activity |
| NCBI Gene |
Gene ID:2068 |
| NCBI GTR |
126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2 |
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278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| OMIM |
126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2 |
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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 |
1 |
| Split Ratio |
1:6 |
| 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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