Description:
HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
LAMIN A/C; LMNA
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
11 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Gene |
LMNA |
| Chromosomal Location |
1q21.2 |
| Allelic Variant 1 |
150330.0022; HUTCHINSON-GILFORD PROGERIA SYNDROME |
| Identified Mutation |
GLY608GLY; Description: In 18 of 20 patients with classic Hutchinson-Gilford progeria syndrome (176670), Eriksson et al. [Nature 423: 293 (2003)] found an identical de novo single-base substitution, a C-to-T change resulting in a silent gly-to-gly mutation at codon 608 (G608G) within exon 11 of the LMNA gene. This substitution created an exonic consensus splice donor sequence and resulted in activation of a cryptic splice site and deletion of 50 basepairs of prelamin A. This mutation was not identified in any of the 16 parents available for testing. |
| Remarks |
Classical progeria; 46,XX in lymphocytes and fibroblasts; 6% of cells show chromosome aberrations; same patient as AG01972B |
| Vidak S, Serebryannyy LA, Pegoraro G, Misteli T, Activation of endoplasmic reticulum stress in premature aging via the inner nuclear membrane protein SUN2 Cell reports42:112534 2022 |
| PubMed ID: 37210724 |
| |
| Frankel D, Delecourt V, Novoa-Del-Toro EM, Robin JD, Airault C, Bartoli C, Carabalona A, Perrin S, Mazaleyrat K, De Sandre-Giovannoli A, Magdinier F, Baudot A, Lévy N, Kaspi E, Roll P, miR-376a-3p and miR-376b-3p overexpression in Hutchinson-Gilford progeria fibroblasts inhibits cell proliferation and induces premature senescence iScience25:103757 2021 |
| PubMed ID: 35118365 |
| |
| Chen X, Yao H, Kashif M, Revêchon G, Eriksson M, Hu J, Wang T, Liu Y, Tüksammel E, Strömblad S, Ahearn IM, Philips MR, Wiel C, Ibrahim MX, Bergo MO, A small-molecule ICMT inhibitor delays senescence of Hutchinson-Gilford progeria syndrome cells eLife10:103757 2020 |
| PubMed ID: 33526168 |
| |
| Sola-Carvajal A, Revêchon G, Helgadottir HT, Whisenant D, Hagblom R, Döhla J, Katajisto P, Brodin D, Fagerström-Billai F, Viceconte N, Eriksson M, Accumulation of Progerin Affects the Symmetry of Cell Division and Is Associated with Impaired Wnt Signaling and the Mislocalization of Nuclear Envelope Proteins The Journal of investigative dermatology139:2272-2280.e12 2018 |
| PubMed ID: 31128203 |
| |
| Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS, Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature423(6937):293-8 2003 |
| PubMed ID: 12714972 |
| |
| 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 |
| |
| Guernsey DL, Koebbe M, Thomas JE, Myerly TK, Zmolek D, An altered response in the induction of cell membrane (Na + K)ATPase by thyroid hormone is characteristic of senescence in cultured human fibroblasts. Mech Ageing Dev33:283-93 1986 |
| PubMed ID: 3012221 |
| |
| Conover CA, Dollar LA, Rosenfeld RG, Hintz RL, Somatomedin C-binding and action in fibroblasts from aged and progeric subjects. J Clin Endocrinol Metab60:685-91 1985 |
| PubMed ID: 2579088 |
| |
| Weichselbaum RR, Nove J, Little JB, X-ray sensitivity of fifty-three human diploid fibroblast cell strains from patients with characterized genetic disorders. Cancer Res40:920-5 1980 |
| PubMed ID: 7471105 |
| |
| Martin GM, Sprague CA, Epstein CJ, Replicative life-span of cultivated human cells. Effects of donor's age, tissue, and genotype. Lab Invest23:86-92 1970 |
| PubMed ID: 5431223 |
| Passage Frozen |
11 |
| 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 |
- |
|
|