GM28053
Fibroblast from Skin, Skin
Description:
LEIGH SYNDROME; LS
SURFEIT 1; SURF1
|
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
|
Russian
|
|
Country of Origin
|
RUSSIA
|
|
Family Member
|
2
|
|
Family History
|
N
|
|
Relation to Proband
|
mother
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
8.43 |
| Passage Frozen |
2 |
| |
| Gene |
SURF1 |
| Chromosomal Location |
9q34.2 |
| Allelic Variant 1 |
185620.0014; LEIGH SYNDROME |
| Identified Mutation |
c.845_846delCT (p.Ser282Cysfs*9); In 9 of 40 unrelated patients with mitochondrial complex IV deficiency (MC4DN1; 220100) manifest as Leigh syndrome, Pequignot et al. (2001) identified a 2-bp deletion in the SURF1 gene (845delCT). |
| Remarks |
Unaffected carrier mother; carries a heterozygous deletion of c.845_846delCT in the SURF1 gene; affected child (GM28054, fibro) has compound heterozygous mutations in SURF1: c.845_846delCT and c.584G>A and likely pathogenic c.584G>A(p.Gly195Asp) in exon 6. |
| Cumulative PDL at Freeze |
8.43 |
| Passage Frozen |
2 |
| Split Ratio |
1:2 |
| 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 |
- |
|