GM00989
Fibroblast from Skin, Skin
Description:
HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
LAMIN A/C; LMNA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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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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Fibroblast from Skin, Skin
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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 Isoenzyme Electrophoresis |
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| Gene |
LMNA |
| Chromosomal Location |
1q21.2 |
| Allelic Variant 1 |
R644C; HUTCHINSON-GILFORD PROGERIA SYNDROME |
| Identified Mutation |
ARG644CYS |
| Remarks |
Donor was diagnosed with atypical progeria and an unspecified type of cachectic dwarfism. The culture was initiated on 2/11/69 using explants of minced skin and was designated Strain S.J. The cell morphology is fibroblast-like. Culture was frozen at PDL 22. This donor is heterozygous for a C-to-T substitution at nucleotide 2142 (2142C>T) in exon 11 of the LMNA gene, resulting in a missense mutation in codon 644 [Arg644Cys (R644C)]. This mutation affects only Lamin A. R644 is in the putative cleavage recognition sequence for the relamin A endoprotease, Zmpste24. |
| Beavan LA, Quentin-Hoffmann E, Schonherr E, Snigula F, Leroy JG, Kresse H, Deficient expression of decorin in infantile progeroid patients. J Biol Chem268:9856-62 1993 |
| PubMed ID: 8486665 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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