GM15908
Fibroblast from Skin, Unspecified
Description:
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3
GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 5; GTF2H5
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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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Biopsy Source
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Unspecified
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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, Unspecified
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Race
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White
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Ethnicity
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ITALIAN 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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| Passage Frozen |
2 |
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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 |
GTF2H5 |
| Chromosomal Location |
6q25.3 |
| Allelic Variant 1 |
; TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3 |
| Identified Mutation |
c.2T>C |
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| Gene |
GTF2H5 |
| Chromosomal Location |
6q25.3 |
| Allelic Variant 2 |
; TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3 |
| Identified Mutation |
c.2T>C |
| Remarks |
Mental retardation; brittle hair and nails; ichthyotic skin; photosensitivity; unscheduled DNA synthesis levels induced by UVC irradiation (2.5, 5 and 10 Jm-2) are between 5 to 10% of control values; affected brother is GM14577 Lymphoblast; see GM14576 Lymph |
| 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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| Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W, A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A Nature genetics36:714-9 2004 |
| PubMed ID: 15220921 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| 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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