NA15752
DNA from Fibroblast
Description:
TRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED
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 Uncertain Biochemical Etiology |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
ERCC2 |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 1 |
Deletion of amino acids 488-493; TRICHOTHIODYSTROPHY |
| Identified Mutation |
18 bp deletion (1540-1557; c.1462-1479) |
| Remarks |
Brittle hair & nails; short stature; physical & mental retardation; nucleotide excision repair 40% of normal; 18 bp deletion at nucleotides 1540_1557 in ERCC2 gene resulting in in-frame loss of codons 488_493 |
| Rajkumar-Calkins AS, Szalat R, Dreze M, Khan I, Frazier Z, Reznichenkov E, Schnorenberg MR, Tsai YF, Nguyen H, Kochupurakkal B, D'Andrea AD, Shapiro GI, Lazaro JB, Mouw KW, Functional profiling of nucleotide Excision repair in breast cancer DNA repair82:102697 2019 |
| PubMed ID: 31499327 |
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| Cleaver JE, Thompson LH, Richardson AS, States JC, A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum,
Cockayne syndrome, and trichothiodystrophy. Hum Mutat14(1):9-22 1999 |
| PubMed ID: 10447254 |
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| Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett
H, Harcourt SA, Arlett CF, Lehmann AR, Xeroderma pigmentosum and trichothiodystrophy are associated with different
mutations in the XPD (ERCC2) repair/transcription gene. Proc Natl Acad Sci U S A94(16):8658-63 1997 |
| PubMed ID: 9238033 |
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| Tolmie JL, de Berker D, Dawber R, Galloway C, Gregory DW, Lehmann AR, McClure J, Pollitt RJ, Stephenson JB, Syndromes associated with trichothiodystrophy. Clin Dysmorphol3:1-14 1994 |
| PubMed ID: 8205320 |
| dbSNP |
dbSNP ID: 15486 |
| 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 |
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Gene ID:7269 |
| NCBI GTR |
126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2 |
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601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 |
| OMIM |
126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2 |
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601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 |
| Omim Description |
IBIDS SYNDROME, INCLUDED |
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ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY, INCLUDED |
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TAY SYNDROME, INCLUDED |
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TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS, INCLUDED |
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TRICHOTHIODYSTROPHY; TTDICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTHRETARDATION, INCLUDED |
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