NG05233
DNA from Fibroblast
Description:
WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES
|
Repository
|
NIA Aging Cell Culture Repository
|
| Subcollection |
Heritable Diseases |
| Quantity |
10ug |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Thigh
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
Asian
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XY,t(1;9)(1qter>1p32::9q22>9qter;9pter>9q22::1q32>1qter),t(1;2;5)(1pter>1q21::5q11.2>5qter;2pter>2q13::1q21>1qter;5pter>5q11.2::2q13>2qter),t(5;10)(5pter>5q11.2::10p15>10pter;10qter>10p15::5q11.2>5qter),inv(13)(pter>p21::q34>q21::q34>qter[43]/46,XY[7]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
9 |
| Passage Frozen |
8 |
| |
| 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 |
| |
| Remarks |
The donor had features of short stature, bird-like appearance, gray hair, skin hyperpigmentation, juvenile bilateral cataracts, atrophic skin and subcutaneous tissue, diabetes and hypogonadism. The family history is negative, but parents are consanguineous. The biopsy was taken ante-mortem and stored frozen. The culture was initiated on 10/14/81 using explants of minced skin tissue. The cell morphology is fibroblast-like. The karyotype is 46,XY; normal diploid male with 40% of cells examined showing random chromosomal abnormalities. Culture grows slowly. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| 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 |
| |
| von Kobbe C, Harrigan JA, May A, Opresko PL, Dawut L, Cheng WH, Bohr VA, Central role for the Werner syndrome protein/poly(ADP-ribose) polymerase 1 complex in the poly(ADP-ribosyl)ation pathway after DNA damage. Mol Cell Biol23(23):8601-13 2003 |
| PubMed ID: 14612404 |
| |
| Goto M, Tanimoto K, Horiuchi Y, Sasazuki T, Family analysis of Werner's syndrome: a survey of 42 Japanese families with a review of the literature. Clin Genet19:8-15 1981 |
| PubMed ID: 7460386 |
|
|