Description:
TRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED
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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 |
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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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White
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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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| Remarks |
TTD-A complementation group. Ichthyotic skin; nonbullous ichthyosiform erythroderma; collodion membranes at birth; brittle hair; photosensitivity; short stature; physical retardation; mild mental retardation; cataracts; asthma; joint contract; recurrent infection; 25% of normal nucleotide excision-repair. Gene not yet cloned, but gene product is not a member of the TFIIH complex. TFIIH complex present in reduced amounts. |
| Vermeulen W, Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, Hoeijmakers JH, Egly JM, Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. Nat Genet26(3):307-13 2000 |
| PubMed ID: 11062469 |
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| Stefanini M, Vermeulen W, Weeda G, Giliani S, Nardo T, Mezzina M, Sarasin A, Harper JI, Arlett CF, Hoeijmakers JH, et al, A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy. Am J Hum Genet53(4):817-21 1993 |
| PubMed ID: 8213812 |
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| Jorizzo JL, Atherton DJ, Crounse RG, Wells RS, Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome). Br J Dermatol106:705-10 1982 |
| PubMed ID: 7082576 |
| Passage Frozen |
9 |
| Split Ratio |
1:2 |
| 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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