GM16955
Fibroblast from Skin, Arm
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
|
Biopsy Source
|
Arm
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Arm
|
|
Race
|
White
|
|
Family Member
|
4
|
|
Relation to Proband
|
brother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
1 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| 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 |
| |
| Gene |
ERCC2 |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 2 |
126340.0015; XERODERMA PIGMENTOSUM, TYPE D |
| Identified Mutation |
ARG683TRP |
| Remarks |
XP34BE; clinically affected; skin biopsy taken from upper arm; marked sun sensitivity, but was well protected; now has minimal skin changes; freckling of lips; reduced post-UV cell survival; bilateral ptygeria of conjunctiva; affected sister is GM16957; see GM16954 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 |
| |
| 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 |
| |
| 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: 23232694 |
| dbSNP |
dbSNP ID: 22514 |
| Gene Cards |
ERCC2 |
| Gene Ontology |
GO:0000287 magnesium ion binding |
|
GO:0003677 DNA binding |
|
GO:0004003 ATP-dependent DNA helicase activity |
|
GO:0005515 protein binding |
|
GO:0005524 ATP binding |
|
GO:0005634 nucleus |
|
GO:0005675 transcription factor TFIIH complex |
|
GO:0006283 transcription-coupled nucleotide-excision repair |
|
GO:0006355 regulation of transcription, DNA-dependent |
|
GO:0006366 transcription from Pol II promoter |
|
GO:0006917 induction of apoptosis |
|
GO:0007605 perception of sound |
|
GO:0016787 hydrolase activity |
|
GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides |
|
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 |
|
278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| OMIM |
126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2 |
|
278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| Omim Description |
TRICHOTHIODYSTROPHY, TYPE 1, INCLUDED; TDD1, INCLUDED |
| |
XERODERMA PIGMENTOSUM IV; XP4TRICHOTHIODYSTROPHY WITH SUN SENSITIVITY, INCLUDED |
| |
XERODERMA PIGMENTOSUM VIII, FORMERLY; XP8, FORMERLY |
| |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| |
XP, GROUP D; XPDC |
| |
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 |
- |
|
|