GM28023
Fibroblast from Skin, Skin
Description:
LEIGH SYNDROME; LS
MARFAN SYNDROME; MFS
SURFEIT 1; SURF1
FIBRILLIN 1; FBN1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Biopsy Source
|
Skin
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Skin
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
Dutch
|
|
Country of Origin
|
USA
|
|
Family Member
|
3
|
|
Family History
|
N
|
|
Relation to Proband
|
father
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.62 |
| Passage Frozen |
2 |
| |
| Gene |
SURF1 |
| Chromosomal Location |
9q34.2 |
| Allelic Variant 1 |
p.L90P; LEIGH SYNDROME |
| Identified Mutation |
c.269T>C (p.L90P) |
| |
| Gene |
FBN1 |
| Chromosomal Location |
15q21.1 |
| Allelic Variant 2 |
p.Glu1366Lys; MARFAN SYNDROME |
| Identified Mutation |
c.4096G>A (p.E1366K) |
| Remarks |
Unaffected carrier; non-consanguineous; Marfan Syndrome; tall stature - 6'9"; 15q deletion; variant segregation analysis by whole exome sequencing revealed that this father has a heterozygous mutation in exon 4 of the SURF1 gene (NM_003172.2): c.269T>C (p.L90P) and a heterozygous mutation in exon 34 of the FBN1 gene (NM_000138.4): c.4096G>A (p.E1366K) or p.Gu1366Lys (GAA>AAA); has three affected children in family 3515: GM28019 (daughter), GM28020 (son), and GM28021 (son); family history of aortic root dilution, lens dislocation, Marfanoid habitus, and joint flexibility. |
| Cumulative PDL at Freeze |
4.62 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| 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 |
| Supplement |
- |
|
|