GM16391
Fibroblast from Skin, Unspecified
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 Connective Tissue, Muscle, and Bone |
| 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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WELSH
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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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| 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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| Remarks |
Clinically affected; low birth weight; short stature; impaired development; skin of trunk ichthyotic; scalp hair short and coarse; elfinlike facies with a beaked nose, receding chin, and large protruding ears; big toenails show lateral ridging; ataxic gait; microscopic exam of hair revealed striking transverse bandlike defects under polarized light and trichorrhexis nodosalike transverse fractures of the hair shafts; electron microscopy demonstrated ridging and fluting along the hair shaft with loss of normal pattern of cuticular scales; amino acid analysis of hair samples showed reduced cystine content (4.6% compared to 8.4% in normal control); abnormally low unscheduled DNA synthesis induced by UVC irradiation and bulk of recovery of RNA synthesis after UVC irradiation |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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