NG13207
DNA from Fibroblast
Description:
PROGEROID SYNDROME, NEONATAL
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Skin
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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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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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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 |
5 |
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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 |
The donor displays the following clinical features: macrocephaly, sparse scalp hair, large anterior fontanelle, small facies, prominent scalp veins, low-set ears, hypotonia, cryptorchidism, low subcutaneous tissue levels, micrognathia, and bilateral club feet. The biopsy was taken antemortem on 6/02/93 and the culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. DNA sequencing found no mutations in the Lamin A gene (LMNA). |
| Cao H, Hegele RA, LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J Hum Genet48(5):271-4 2003 |
| PubMed ID: 12768443 |
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