GM28053
Fibroblast from Skin, Skin
Description:
LEIGH SYNDROME; LS
SURFEIT 1; SURF1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Skin
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Skin
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Russian
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Country of Origin
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RUSSIA
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Family Member
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2
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Family History
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N
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Relation to Proband
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mother
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
8.43 |
| Passage Frozen |
2 |
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| 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 |
- |
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