NG01178
DNA from Fibroblast
Description:
HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
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 |
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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Relation to Proband
|
proband
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Confirmation
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Clinical summary/Case history
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ISCN
|
46,XY,del(21)(qter>p11.1:)[4]/46,XY[46]
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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 |
26 |
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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 |
|
Remarks |
Donor had clinical features of small eyes, spontaneous nystagmus, increased corneal curvature, absence of teeth, severe micrognathia, small testes (3ml), diminished muscular mass, absence of body hair, and an old looking face with a depressed nose. Scalp hair was sparse and thin, not greyish. Donor died at age 34 years. |
Csoka AB, Cao H, Sammak PJ, Constantinescu D, Schatten GP, Hegele RA, Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. J Med Genet41(4):304-8 2004 |
PubMed ID: 15060110 |
|
Chen KY, Chang ZF, Age dependency of the metabolic conversion of polyamines into amino acids in IMR-90 human embryonic lung diploid fibroblasts. J Cell Physiol128:27-32 1986 |
PubMed ID: 3087998 |
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Chen KY, Chang ZF, Liu AY, Changes of serum-induced ornithine decarboxylase activity and putrescine content during aging of IMR-90 human diploid fibroblasts. J Cell Physiol129:142-6 1986 |
PubMed ID: 3771651 |
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