GM21931
Fibroblast from Skin, Unspecified
Description:
MARFAN SYNDROME; MFS
FIBRILLIN 1; FBN1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
9.08 |
| Passage Frozen |
12 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
FBN1 |
| Chromosomal Location |
15q21.1 |
| Allelic Variant 1 |
stop at codon 1186; MARFAN SYNDROME |
| Identified Mutation |
3464del17 |
| Remarks |
Clinically affected; long extremities; tall stature; marked pectus excavatum; no ocular manifestations; aortic aneurysm and mitral valve prolapse were noted at age 45 years; she underwent replacement of the aortic root and ascending aorta with a composite graft; two affected sons; donor subject has a 17 bp deletion at nucleotide 3464 in exon 28 of the FBN1 gene (3464del17) resulting in a frameshift and a stop codon at 1186 |
| Tynan K, Comeau K, Pearson M, Wilgenbus P, Levitt D, Gasner C, Berg MA, Miller DC, Francke U, Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains Human molecular genetics2:1813-21 1993 |
| PubMed ID: 8281141 |
| Cumulative PDL at Freeze |
14.6 |
| Passage Frozen |
12 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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 |
- |
|